Property Summary

NCBI Gene PubMed Count 267
PubMed Score 738.64
PubTator Score 1037.16

Knowledge Summary

Patent (102,103)

TINX Plot

  Disease (8)

Expression

  Differential Expression (2)

Disease log2 FC p
primitive neuroectodermal tumor -1.300 1.8e-03
group 4 medulloblastoma -1.500 4.3e-08

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
492951 confirmatory 77 / 0 / 115 Human Glck Counter Screen Assay

Gene RIF (241)

PMID Text
26620281 Given that acetylated GKRP may affiliate with type-2 diabetes mellitus (T2DM), understanding the mechanism of GKRP acetylation in the liver could reveal novel targets within the GK-GKRP pathway, for treating T2DM and other metabolic pathologies.
26283387 analysis of allosteric activation mechanisms in monomeric human glucokinase
26240958 DR of any degree was not present in our GCK-MODY group, while in spite of young age almost every fourth subject with HNF1A-MODY showed signs of this complication.
26226118 The results of this study showed that mutations in the GCK gene are the leading cause of maturity-onset diabetes of the young in our population
26208450 Thus, a glucokinase activator drug therapy may help MODY2 patients not in general, but seems to be a useful strategy for carriers of the L315H glucokinase mutation.
25987348 Plasma ghrelin is higher in glucokinase-maturity onset diabetes of the young than in the common polygenic forms of diabetes.
25935773 Patients had higher fasting and postprandial glycemic excursions in the first trimester of GCK mutation MODY pregnancies than HNF-1alpha mutation MODY pregnancies despite insulin treatment. There was an increased percentage of miscarriages in GCK pregnancies.
25892191 Aberrant methylation of the GCK gene body was significantly associated with the risk of essential hypertension.
25850297 Two novel GCK splicing mutations in Maturity Onset Diabetes of Young 2 have been characterized.
25633883 The meta-analysis showed that GCK-30G > A polymorphism was associated with GDM in Caucasian and Asian.
25336239 High levels of HbA1c were associated with an increased risk of recurrence of atrial tachyarrhythmia in patients with T2DM and PAF undergoing catheter ablation.
25200293 Data suggest that brain glucokinase (especially in glial cells and neurons) plays key role in glucose sensing, feedback to pancreatic islets, and metabolic homeostasis. [REVIEW]
25174781 GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu.
25074928 Atf3-silencing reversed ethanol-mediated Gck down-regulation and beta-cell dysfunction, followed by the amelioration of impaired glucose tolerance and insulin resistance.
25015100 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
24992032 Elevated GCK CpG4 methylation was observed in male T2D patients.
24890200 A heterozygous activating mutation, p.Val389Leu, was found in the proband and four other family members with familial adult onset hyperinsulinism.
24804978 genetic association study in population in Japan: In study of 55 probands diagnosed at 0-14 years and 23 adult family members, 35 different mutations in GCK were identified as associated with MODY2 (glucokinase maturity-onset diabetes of the young).
24728127 Common variation in GCK influences the rate of carbohydrate oxidation, 24 h energy expenditure and diabetes risk in Pima Indians.
24723372 Results suggest a model in which the primary structure of connecting loop I affects cooperativity by influencing conformational dynamics, without altering the equilibrium distribution of GCK conformations.
24720358 structural variations in in exons 10 and 11 due to mutations could be one of the strongest reasons for the hyperglycemic levels in these type 2 diabetic patients
24696842 The hypomethylation of GCK gene-body was significantly associated with the risk of coronary heart disease.
24637025 Studies indicate differential regulation of glucokinase in pancreatic beta cells and the liver.
24578721 MODY 2-associated deleterious missense mutations in the GCK gene were found to alter the stability, flexibility, and solvent-accessible surface area of the protein.
24568320 Data suggest that GK (glucokinase) and GKRP (glucokinase regulatory protein) form stabile complex with co-operative interaction and allosteric regulation of both activities; studies involved isolated recombinant proteins/site-directed mutagenesis.
24520939 meta-analysis indicated that the risk allele of the GCK -30G>A polymorphism may increase gestational diabetes mellitus and type 2 diabetes mellitus risk in whites, whereas additional studies are needed to confirm the effect of this polymorphism on both diseases in Asians and Africans
24495862 This is the first report that presents a significant association of polymorphism rs2268574 in Glucokinase gene with gestational Diabetes mellitus patients.
24447338 The amplified luminescent proximity homogeneous assay (AlphaScreen) identifies the interaction of HIV-1 Gag with GCK
24430320 Despite a median duration of 48.6 years of hyperglycemia, patients with a GCK mutation had low prevalence of microvascular and macrovascular complications
24405491 This is the first study of MODY 2 mutations from India and confirms the importance of considering GCK gene mutation screening in patients with mild early-onset hyperglycemia who are negative for beta-cell antibodies.
24323243 Mutations in GCK, HNF1A or HNF4A genes were detected in 58 of 150 individuals. Parents of 28 probands were unavailable for further analysis, and in 19 probands the mutation was inherited from an asymptomatic parent.
24146201 GK and GKRP immunoreactivities are changed in pyramidal neurons and newly expressed in astrocytes in the ischemic CA1 after transient cerebral ischemia
24001579 On mutation of glucokinase, a hydrogen bond between the R275 side-chain and the carbonyl oxygen of D267 is broken, destabilizing the F260-L271 loop structure and the protein.
23957911 we report the crystal structure of the mammalian GCK-GKRP complex in the presence of fructose 6-phosphate at a resolution of 3.50 A.
23878349 Heterozygous mutations in the GCK and HNF1A/ HNF4A genes account for up to 80% of all Maturity onset diabetes of the young cases. (Review)
23843579 Complete sequencing of the GCK gene, carried out in the patient, identified a novel mutation c.1268T>A (p.Phe423Tyr) in exon 10 of the gene GCK in heterozygosity. Further studies revealed the same mutation in her mother and maternal grandfather
23840762 GCKR rs780094 variant confers high cross-ethnicity risk for the development of T2DM, while significant associations between GCK, MTNR1B and G6PC2 variants and T2DM risk are limited to Caucasians.
23733961 We find that GKRP acts as an allosteric switch for GK in blood glucose control by the liver.
23586928 Data suggest that single nucleotide mutations in 3'-untranslated region of GSK can lead to false positives in genetic text for deletions in GSK exon 10. [CASE REPORT; 2 unrelated patients]
23441155 This meta-analysis demonstrated that the -30G>A polymorphism of GCK is a risk factor associated with increased T2D susceptibility, but these associations vary in different ethnic populations.
23433541 the deletion 96_98delAAG (p.Lys32del) - a novel mutation in patients with mild familial hyperglycaemia
23271955 GCK cooperativity is explained in terms of large-scale, glucose-mediated disorder-order transitions.
23155715 report of a family with MODY2 caused by a novel NM_000162.3:c.878T>C mutation in exon 8 of the GCK gene
23139355 The results show that mutations in glucokinase resulting in maturity-onset diabetes of the young 2 yield a metabolically normal condition, which may contribute to the lack of late complications and the nonprogressive nature of the disease.
23085272 study identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene
23029263 Sequences downstream of the liver-specific mRNA start site have important roles in the regulation of liver-specific glucokinase gene expression.
23009393 Carriers of both GCK and HNF1A mutations manifested a typical maturity-onset diabetes of the young 3 phenotype and showed that the presence of a second mutation in the GCK gene apparently did not modify the clinical outcome.
22820548 similar properties may represent the molecular mechanisms for additional unexplained GCK-MODY mutations, and may also contribute to the disease mechanism in other previously characterized GCK-MODY inactivating mutations
22761713 Glucokinase mutations are associated with Type 2 Maturity Onset Diabetes of the Young.
22653590 Data conclude that mutations in GCK introns and in non-translatable regions of the GCK gene do not affect glycemic control and are not correlated with gestational diabetes mellitus.
22611063 R43H-GCK appeared to have similar basic kinetic characteristics to WT-GCK, there was in vitro evidence of protein instability, indicating that this variant is pathogenic. For G68D-GCK, there was no evidence of protein instability
22540858 We found coincidence between the GCK-diabetes and type 2 diabetes in the members of a single Roma (Gypsy) family.
22517333 Essential roles of the polymorphisms of the APOA5, GCK and GCKR in the lipid or glucose metabolism disorders.
22493702 22 glucokinase mutations causing maturity-onset diabetes of the young in Slovakia have been identified.
22432108 In the type 1 diabetic group, two HNF1A mutations were found (0.8% prevalence). In type 2 diabetic subjects, 10 HNF1A, two HNF4A, and one GCK mutation were identified.
22341299 Structural modeling and clinical correlation suggests that the GCK variant causes monogenic diabetes while the variant in HNF1A is unlikely to be pathogenic.
22335469 mutations in the glucokinase (GCK) gene have not been described previously and were shown to be associated with maturity onset diabetes of the young .
22332836 The large proportion of families carrying three ancestral mutations in GCK indicates that the previously assumed rarity of the founder effect with regard to GCK-maturity onset diabetes of the young (MODY) should be reconsidered.
22298776 analysis of respective crystal structures of the catalytic complex of GK and of a GK-glucose complex in a wide open conformation
22291974 The Ala449Thr mutation alters the equilibrium between the conformational states of glucokinase and highlights the importance of the fine-tuning of GK and its role in glucose sensing.
22177951 the compensatory down-regulation of UCP2 is involved in preserving the insulin secretory capacity of glucokinase mutant mice and might also be implicated in limiting disease progression in MODY2 patients.
22096510 Six SNP(rs7754840 in CDKAL1, rs391300 in SRR, rs2383208 in CDKN2A/2B, rs4402960 in IGF2BP2, rs10830963 in MTNR1B, rs4607517 in GCK)risk alleles of type 2 diabetes were associated with GDM in pregnant Chinese women.
22060211 In Japanese patients with pediatric-onset MODY-type diabetes, mutations in known genes were identified at a much higher frequency than previously reported for adult Asians.
22043488 MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous GCK gene deletion syndrome
22038520 Data suggest that glucokinase regulatory protein (GCKR) P446L variant (an SNP [rs1260326] associated with type 2 diabetes risk) alters ability of GCKR to sequester glucokinase in nucleus of hepatocytes.
21978167 The high incidence of the mutant allele in GCK-MODY patients of Jewish-Ashkenazi descent suggests a founder effect.
21720051 Results suggest that GCK gene defects exist in non-obese children who are diagnosed with asymptomatic diabetes by school medical examinations.
21604084 Data show that T342P GCK missense variant is not a pathogenic mutation causing MODY.
21544516 Data ound mutations in KCNJ11, INS and ABCC8 and GCK genes in permanent diabetes mellitus with onset in the first 12 months of age.
21518409 We report four novel cases of permanent neonatal diabetes mellitus caused by homozygous GCK mutations, including a non-sense mutation in exon 3 (Q98X) and a missense mutation in exon 7 (G261R)
21454584 Glucagon-like peptide 1 stimulates post-translational activation of glucokinase in pancreatic beta cells
21437567 Heterozygous mutations of the GCK gene may result in neonatal diabetes similar to type 1 diabetes, the cause of such phenotype variety is still unknown.
21420961 findings provide structural basis for the reduced activity of E339K GK mutant.
21348868 Novel mutations within the GCK gene are associated with monogenic diabetes.
21104275 a novel missense mutation (Glu339 to Lys339) in the glucokinase gene from a Chinese family with hyperglycemia decreased glucokinase kinetics and severely impaired glucokinase stability.
21036910 Observational study of gene-disease association. (HuGE Navigator)
20979768 glucokinase gene E339K mutation promotes the development of maturity-onset diabetes of the young-2
20889853 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20878480 Mutations in pancreatic ss-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.
20858683 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20845477 Observational study of gene-disease association. (HuGE Navigator)
20828143 Global fit analysis of glucose binding curves reveals a minimal model for kinetic cooperativity in human glucokinase.
20682688 Maternal GCK variants are associated with glucose levels carry an increased risk of adverse pregnancy outcome in women without overt diabetes.
20682688 Observational study of gene-disease association. (HuGE Navigator)
20682687 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20668700 Study showed that SNPs from GCK, G6PC2 and MTNR1B modulated the fasting glucose levels in the normoglycaemic population while SNPs from G6PC2 and GCKR was associated with type 2 diabetes.
20668700 Observational study of gene-disease association. (HuGE Navigator)
20628598 Common variants of MTNR1B, G6PC2 and GCK are associated with elevated FPG and impaired insulin secretion, both individually and jointly, suggesting that these risk alleles may precipitate or perpetuate hyperglycemia in predisposed individuals.
20628598 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20587714 two new mutations in GCK in MODY2 disease
20536962 Observational study of gene-disease association. (HuGE Navigator)
20490451 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20458967 Our data indicated that the previously studied mutations in Italian and Caucasian patients in the GCK gene are not common in MODY Jordanian population, suggesting a racial difference can be found in the frequency of the GCK polymorphism.
20458967 Observational study of gene-disease association. (HuGE Navigator)
20337973 The study shows a relatively high proportion of GCK mutations among individuals with GCK-like phenotype. We report several prevalent GCK mutations with a likely founder effect in the Czech population.
20337973 Observational study of gene-disease association. (HuGE Navigator)
20227404 Observational study of gene-disease association. (HuGE Navigator)
20185807 Observational study of gene-disease association. (HuGE Navigator)
20164212 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20144192 Variant rs730947 in the GCK1 gene is associated with end-stage renal disease in type 2 diabetes.
20144192 Observational study of gene-disease association. (HuGE Navigator)
20132997 three novel mutations causing MODY (Maturity Onset Diabetes of the Young) -two missense mutations in HNF1A [F268L (c.802T>C) and P291S (c.871C>T)] and one frame shift mutation in GCK V244fsdelG (c.729delG
20081858 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20015564 We report a case of type 2 diabetes caused by a novel GCK mutation and demonstrate differential glycemic/C-peptide responses to treatment with insulin, no medication, and an oral sulfonylurea.
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19937311 Fasting glucose association at GCK is replicable across ethnic groups, although ethnic diversity in the pattern and strength of linkage disequilibrium exists.
19937311 Observational study of gene-disease association. (HuGE Navigator)
19934346 findings link defects in hormone-regulated GCK S-nitrosylation to hyperglycemia and support a role for posttranslational regulation of GCK S-nitrosylation as a vital regulatory mechanism for glucose-stimulated insulin secretion
19913121 Observational study of gene-disease association. (HuGE Navigator)
19884385 Data identified a novel activating GCK mutation that although being associated with severe neonatal hypoglycemia is characterized by the mildest activation of the glucokinase enzyme of all previously reported.
19790256 mutations in glucokinase which cause maturity-onset diabetes of the young, permanent neonatal diabetes & hyperinsulinemic hypoglycemia [review]
19741166 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19741163 Data suggest that variation in GCK and G6PC2 have additive effects on both fasting glucose and insulin secretion.
19741163 Observational study of gene-disease association. (HuGE Navigator)
19651812 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19643913 Data show that assays matched for GKRP activity demonstrated no difference in dose-dependent inhibition of GCK activity or F1P-mediated regulation.
19617908 elucidates atomic information of the catalytic site in GK for glucose phosphorylation. A 10-ns MD simulation of the GMAG complex revealed that Lys169 plays a dominant role in glucose phosphorylation
19578796 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19564454 GCK mutations are the prevailing cause of MODY (63.4%) when the index case is recruited in Italian children with incidental hyperglycemia.
19564454 Observational study of gene-disease association. (HuGE Navigator)
19551638 Data did not find any association of mutations in the GCK gene in Jordanian suspected MODY2 patients or in healthy controls.
19551638 Observational study of gene-disease association. (HuGE Navigator)
19533084 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19515026 Genetic testing showed combination MODY2 (c.1019+18G >A) and MODY4 (c.226G>A) gene mutations
19473033 The alpha13 C-terminal helix of glucokinase plays an essential role in facilitating cooperativity. Findings establish a link between the alpha13 amino acid sequence and the functional dynamics of the glucokinase scaffold that are required for allostery.
19459610 The glucose dependence of the major kinetic phase supported the preexistence of at least two slowly interconverting glucokinase conformers.
19411616 To ensure correct diagnosis of potential type 2 diabetes, analysis of the beta-cell GCK promoter should be included.
19410318 Non-frameshift deletion may implicate the affinity of GCK mutations in maturity onset diabetes of the young.
19368707 Observational study of gene-disease association. (HuGE Navigator)
19358091 Observational study of gene-disease association. (HuGE Navigator)
19336674 Responsiveness to diazoxide varies with genotype in glucokinase hyperinsulinism mutations, resulting in hypoglycemia, which can be more difficult to control than previously believed.
19282865 These results suggest that SORBS1 and GCK are susceptibility loci for hypertension in Japanese women and that WISP1 is such a locus in men.
19282865 Observational study of gene-disease association. (HuGE Navigator)
19241058 GCK rs1799884 A allele is significantly associated with decreased beta-cell function, but not with type 2 diabetes in Han Chinese individuals.
19241058 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19228875 Observational study of gene-disease association. (HuGE Navigator)
19187021 MODY2 glucokinase variants V62M and G72R showed reduced enzymatic activities, kinetics and glucose binding affinities.
19169489 Heterozygous variants in GCK and HNF1alpha genes were observed respectively in one (7.7%), and six (46.2%) families but it could not be ascertained whether the GCK Gly117Ser variant found in one family is a causal mutation.
19150152 Missense mutation and insertional mutagenesis are observed in Italian families with type 2 diabetes.
19146401 Eleven new activating mutations in the glucokinase gene have been discovered that are associated with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The stimulatory mutations described represent surreptitious genetic determinants of PHHI.
19125755 Observational study of gene-disease association. (HuGE Navigator)
19096518 Observational study of gene-disease association. (HuGE Navigator)
19073768 This protein and glucokinase regulatory protein increase fasting blood glucose and risk of diabetics who have other risk factors.
19073768 Observational study and meta-analysis of gene-disease association and gene-gene interaction. (HuGE Navigator)
19060907 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
19018513 Effects of established gene variation on lipid and glucose traits do not tend to alter with age during adulthood or over time.
19018513 Observational study of gene-disease association. (HuGE Navigator)
19002431 prevalence of GCK mutations in individuals screened for fasting hyperglycaemia who were thought to be at increased risk of developing type 2 diabetes.
19002431 Observational study of gene-disease association. (HuGE Navigator)
18828733 Observational study of gene-disease association. (HuGE Navigator)
18811724 Observational study of gene-disease association. (HuGE Navigator)
18809676 Prototypical activator of Glucokinase (GK) of the amino-heteroaryl-amide type bound to GK in a glucose-dependent manner and impaired the association of GK with GK regulatory protein
18805788 HNF-4 and Foxo1 are required for reciprocal transcriptional regulation of glucokinase and glucose-6-phosphatase genes in response to fasting and feeding
18672310 results suggested that mutations in MODY2 and MODY3 genes do not explain the majority of maturity-onset diabetes of the young (MODY) cases in Brazilian population
18651836 [Review] Increase in blood-glucose concentration in the portal vein activates glucokinase, first enzyme in the molecular pathway, causing an increase in concentration of glucose 6-phosphate, which modulates the phosphorylation state of downstream enzymes.
18571549 analysis of a neonatal diabetes mellitus patient with a novel homozygous (T168A) glucokinase (GCK) mutation [case report]
18556336 Observational study of gene-disease association. (HuGE Navigator)
18498634 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18483479 In a population from southern Spain, carriers of the A allele of the -30G>A polymorphism in the promoter of the glucokinase gene had a lower risk for obesity and the likelihood of losing weight was greater in obese persons who had the A allele (GA or AA).
18483479 Observational study of gene-disease association. (HuGE Navigator)
18450771 In the largest study performed to date on GCK in children with congenital hyperinsulinism, GCK mutations were found only in medically responsive children who were negative for ABCC8 and KCNJ11 mutations.
18450771 Observational study of gene-disease association. (HuGE Navigator)
18411240 Glucose tolerance can remain stable over many years in subjects with type 2 diabetes due to relative stability of the glucokinase mutations.
18399931 study found 2 novel (S76Y & N231S) & 13 previously reported (V62A, G72R, L146R, R191W, A208T, M210K, Y215X, M235T, R275C, E339G, R377C, S453L & IVS5+1G>C) GCK mutations in 23 maturity-onset diabetes of the young, type 2 probands & their 33 family members
18397317 Results identify residue contacts in human glucokinase involved in the initial binding of alpha-d-glucose and conformational transitions.
18382660 analysis of structural and genotype-phenotype analyses for glucokinase in MODY children from South Italy
18370929 analysis of glucokinase by kinetic measurement and tryptophan fluorescence
18332101 Observational study of gene-disease association. (HuGE Navigator)
18325809 Overexpression of glucokinase is unlikely to be a common cause of hypoglycaemia of infancy in humans.
18322640 In a study of six missense mutations, mutation severity correlated with the importance of the glucokinase structural changes introduced by the mutations.
18298419 Viallelic GCK loss should be considered as a potential cause permanent neonatal diabetes in children born to consanguineous parents.
18271687 no difference in the frequencies of GCK polymorphisms between Czech diabetic (diabetes type 2, gestational diabetes) and non-diabetic populations
18271687 Observational study of gene-disease association. (HuGE Navigator)
18248649 This study showed that, although the presence of haploinsufficiency of GCK is not a common cause of diabetes type 2 in children, gene dose analysis should be performed when no mutation is found.
18208578 The activating GCK(glucokinase)mutation was dominantly inherited, Hypoglycaemia unawareness seems to be a prominent feature, but hypoglycaemic attacks occur after slimming, especially postprandially.
18196929 The polymorphism at -258 of the fetal hepatic glucokinase promoter is most probably not of a major relevance in the pathophysiology of low birth weight in preterm neonates.
18196929 Observational study of gene-disease association. (HuGE Navigator)
18187620 Knockdown of glucokinase (hexokinase 4) (GCK) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
18184897 Insulin, directly or indirectly, plays a role in placental growth, especially as a mutation in the GCK gene, which is known to only alter fetal insulin secretion.
18184897 Observational study of gene-disease association. (HuGE Navigator)
18159847 Observational study of gene-disease association. (HuGE Navigator)
18159847 Our study suggests that c.1253+8 C-->T polymorphism in intron 9 of glucokinase gene could have a role in predisposition to type 2 diabetes in women with gestational diabetes.
18039179 PFK-2/FBPase-2 protein rather than its product fructose 2,6-P(2) is the over-riding determinant of glucose-induced insulin secretion through regulation of glucokinase activity or subcellular targeting.
18008060 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17994217 adipocyte-derived Wnt signalling molecules regulate insulin secretion, glucokinase gene transcription and beta cell proliferation
17976205 study of a pedigree with 8 affected persistent hyperinsulinaemic hypoglycaemia of infancy individuals; the novel GCK mutation G68V is associated with variable phenotypic severity
17937063 Four missense mutations were found in the GCK gene. All mutations in the GCK gene co-segregated with diabetes mellitus.
17584736 GCK is required for JNK and, unexpectedly, p38 activation by three bacterial PAMPs, lipopolysaccharide, peptidoglycan, and flagellin
17573900 Almost 90% of the MODY cases in the group studied are explained by mutations in the major genes GCK (MODY2) and HNF-1alpha(MODY3), although differences in the relative prevalence of each form could be partly due to patient referral bias.
17561510 human glucokinase is allosterically activated by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation
17389332 results suggest that cellular loss of GK catalytic activity rather than impaired translation or enhanced protein degradation may account for the hyperglycemia in subjects with V62M and G72R mutations
17327436 A study evaluating the extent to which common variation in the six known maturity-onset diabetes of the young (MODY) genes, which cause a monogenic form of type 2 diabetes, is associated with type 2 diabetes is presented.
17260972 data support control of GK activity and Km through the ratio of distinct conformers (super-open, open, and closed) through either substrate or other ligand binding and/or dissociation
17216282 Lack of genetic predisposition in offspring to progressive beta cell dysfunction in glucokinase mutation of mmothrs.
17186458 Observational study of gene-disease association. (HuGE Navigator)
17186458 GCK is associated with fetal growth and birth weight
17186219 Different type 2 doabetes mutations impair glucokinase function through different mechanisms such as enzymatic activity, protein stability and increased interaction with the flucokinase receptor
17082186 The alteration in glucokinase (GK) activity caused by polymorphic activating mutations may have a more profound biological impact than the alleviation of inhibition caused by interaction with GKRP.
17070428 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16963153 The prevalence of mutations in the GSK gene was studied in Polish women with gestational diabetes.
16936201 Observational study of gene-disease association. (HuGE Navigator)
16752173 Observational study of gene-disease association. (HuGE Navigator)
16752173 The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.
16632067 Observational study of genotype prevalence. (HuGE Navigator)
16444761 Families of young children with fasting hyperglycemia with family histories of diabetes showed mutations in glucokinase.
16378108 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
16331569 The prevalence of structural mutations in glucokinase gene responsible for early-onset diabetes appears to be rare among Chinese patients.
16331569 Observational study of gene-disease association. (HuGE Navigator)
16186409 Observational study of gene-disease association. (HuGE Navigator)
16186409 glucokinase -30G>A polymorphism associates with elevated fasting and post-oral glucose tolerance test glycemia in the middle-aged whites as well as with impaired glucose regulation and WHO-defined metabolic syndrome
16173921 identification and functional characterization of missense mutations in the GCK gene in diabetic families that result in protein mutations Leu165-->Phe, Glu265-->Lys and Thr206-->Met.
15987895 Two new activating mutations of human glucokinase increase the affinity of the enzyme for glucose.
15928245 relative prevalence of 3% of MODY1 (two different mutations in two families), 10% of MODY2 (seven in eight), and 36% of MODY3 (21 in 28) among Danish kindred clinically diagnosed as MODY
15918042 Observational study of gene-disease association. (HuGE Navigator)
15841481 5 novel mutations within the GCK gene, associated with Maturity-onset diabetes of the young, are discussed.
15677518 Observational study of gene-disease association. (HuGE Navigator)
15677518 COmmon genetic variation, in addition to rare mutations and environmental factors, can affect both fastinsg blood glucose and birth weight.
15677479 Data describe the glucokinase V62M mutation identified in two families and co-segregating with hyperglycemia to understand how this mutation resulted in reduced function.
15305805 a mutation of the GCK gene was found in families and patients with maturity-onset diabetes of the young
15277402 Range of the clinical phenotype caused by GCK mutations varies from complete insulin deficiency to extreme hyperinsulinemia.
15173029 Observational study of gene-disease association. (HuGE Navigator)
15173029 A G(-30)A polymorphism in the beta-cell-specific promoter of glucokinase (GK-30PM)increases the risk of CAD in individuals with and without type 2 diabetes mellitus.
15009676 We have found GLUT-2 and glucokinase mRNAs in several brain regions, including the ventromedial and arcuate nuclei of the hypothalamus
14747279 high-fat feeding impairs both insulin- and exercise-stimulated muscle glucose uptake, but only exercise-stimulated MGU was corrected by HK II overexpression
14617577 fructose-2,6-diphosphate can stimulate hepatic glucokinase gene expression in an insulin-independent manner
14578306 Autosomal recessive inheritance and GLK deficiency are features typical for an inborn error of metabolism, which occurred in the glucose-insulin signaling pathway in these subjects.
14517946 summary of glucokinase mutations in glucose metabolism disorders.
12941786 two novel spontaneous GCK-activating mutations whose clinical phenotype clearly differs from mutations in ATP-sensitive K(+) channel genes
12627330 Twenty different mutations in the HNF-4alpha, GCK and HNF-1alpha in 29 families. Three of 3, 10 of 11 and 1 of 6 of the mutations identified in HNF-4alpha, GCK and HNF-1alpha respectively, were new.
12515438 Observational study of genotype prevalence. (HuGE Navigator)
12442280 Four novel GCK mutations, namely IVS2-7G>A, G72R, T206R and S263P, were identified in Canadian MODY patients.
12101177 insulin regulates both the association of GK with secretory granules and the activity of the enzyme within the pancreatic beta-cell.
12050210 mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.
11914755 Mutations are not a common cause of permanent neonatal diabetes in France.
11772903 Observational study of gene-disease association. (HuGE Navigator)
11756407 These results are consistent with GKRP having one single binding site for phosphate esters. They also show that a missense mutation of GKRP can lead to a gain of function
11440371 Uncategorized study of genetic testing. (HuGE Navigator)
11112984 Observational study of gene-disease association. (HuGE Navigator)
11112984 G-to-A polymorphism in the hepatic GCK promoter is associated with hepatic insulin resistance in normotensive Asian Indians with normal glucose tolerance.
11106831 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSE      1 - 70
VGDFLSLDLGGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMK     71 - 140
HKKLPLGFTFSFPVRHEDIDKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATM    141 - 210
ISCYYEDHQCEVGMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDES    211 - 280
SANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEASEQLRTRGAFETRFVSQVESDTGDRKQIYN    281 - 350
ILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFK    351 - 420
ERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ                             421 - 465
//

Text Mined References (268)

PMID Year Title
26620281 2015 Acetylation of glucokinase regulatory protein decreases glucose metabolism by suppressing glucokinase activity.
26283387 2015 Dual allosteric activation mechanisms in monomeric human glucokinase.
26240958 2015 Prevalence of Retinopathy in Adult Patients with GCK-MODY and HNF1A-MODY.
26226118 2015 Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing.
26208450 2015 Characterization of two MODY2 mutations with different susceptibility to activation.
25987348 2015 Circulating ghrelin level is higher in HNF1A-MODY and GCK-MODY than in polygenic forms of diabetes mellitus.
25935773 2015 The clinical management of hyperglycemia in pregnancy complicated by maturity-onset diabetes of the young.
25892191 2015 Aberrant methylation of the GCK gene body is associated with the risk of essential hypertension.
25850297 [Functional characterization of two novel splicing mutations in glucokinase gene in monogenic diabetes MODY2].
25633883 2015 Association of the glucokinase gene promoter polymorphism -30G > A (rs1799884) with gestational diabetes mellitus susceptibility: a case-control study and meta-analysis.
25336239 2015 HbA1c levels as predictors of ablation outcome in type 2 diabetes mellitus and paroxysmal atrial fibrillation.
25200293 2014 Brain glucose sensing, glucokinase and neural control of metabolism and islet function.
25187374 2015 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
25174781 2014 Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.
25074928 2014 Chronic ethanol consumption inhibits glucokinase transcriptional activity by Atf3 and triggers metabolic syndrome in vivo.
25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
24992032 2014 Elevated CpG island methylation of GCK gene predicts the risk of type 2 diabetes in Chinese males.
24890200 2014 Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.
24804978 2014 Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients.
24728127 2014 Common genetic variation in the glucokinase gene (GCK) is associated with type 2 diabetes and rates of carbohydrate oxidation and energy expenditure.
24723372 2014 Role of connecting loop I in catalysis and allosteric regulation of human glucokinase.
24720358 2015 Mutations in exons 10 and 11 of human glucokinase result in conformational variations in the active site of the structure contributing to poor substrate binding - explains hyperglycemia in type 2 diabetic patients.
24696842 2014 GCK gene-body hypomethylation is associated with the risk of coronary heart disease.
24647736 2014 Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
24637025 2014 A fresh view of glycolysis and glucokinase regulation: history and current status.
24578721 2014 Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
24568320 2014 Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence.
24520939 2014 Association of GCK -30G> a polymorphism with gestational diabetes mellitus and type 2 diabetes mellitus risk: a meta-analysis involving 18 case-control studies.
24495862 2014 The polymorphism rs2268574 in Glucokinase gene is associated with gestational Diabetes mellitus.
24430320 2014 Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia.
24405491 2014 Glucokinase gene mutations (MODY 2) in Asian Indians.
24323243 2014 De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
24244560 2013 A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.
24146201 2013 Time-course changes in immunoreactivities of glucokinase and glucokinase regulatory protein in the gerbil hippocampus following transient cerebral ischemia.
24001579 2014 GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.
23957911 2013 Structural basis for regulation of human glucokinase by glucokinase regulatory protein.
23878349 2013 Maturity onset diabetes of the young: identification and diagnosis.
23843579 2014 A novel genetic mutation in a Portuguese family with GCK-MODY.
23840762 2013 Large scale meta-analyses of fasting plasma glucose raising variants in GCK, GCKR, MTNR1B and G6PC2 and their impacts on type 2 diabetes mellitus risk.
23733961 2013 Molecular basis for the role of glucokinase regulatory protein as the allosteric switch for glucokinase.
23586928 2013 Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.
23575436 2013 New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
23441155 2013 Genetic polymorphism of glucokinase on the risk of type 2 diabetes and impaired glucose regulation: evidence based on 298,468 subjects.
23433541 2013 A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.
23271955 2012 Order-disorder transitions govern kinetic cooperativity and allostery of monomeric human glucokinase.
23155715 2012 MODY2 caused by a novel mutation of GCK gene.
23139355 2013 Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2).
23085272 2013 MODY 2: mutation identification and molecular ancestry in a Brazilian family.
23029263 2012 Expression of the human glucokinase gene: important roles of the 5' flanking and intron 1 sequences.
23009393 2013 Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing.
22820548 2012 GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
22761713 2012 Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
22653590 2012 Low prevalence of glucokinase gene mutations in gestational diabetic patients with good glycemic control.
22611063 2012 Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
22540858 2012 Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report.
22517333 2012 Associations of apolipoprotein A5 (APOA5), glucokinase (GCK) and glucokinase regulatory protein (GCKR) polymorphisms and lifestyle factors with the risk of dyslipidemia and dysglycemia in Japanese - a cross-sectional data from the J-MICC Study.
22493702 2012 Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
22432108 2012 Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young.
22399527 2012 Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
22341299 2012 Clinical assessment of HNF1A and GCK variants and identification of a novel mutation causing MODY2.
22335469 2013 MODY type 2 P59S GCK mutant: founder effect in South of Italy.
22332836 2012 Ancestral mutations may cause a significant proportion of GCK-MODY.
22298776 2012 Insights into mechanism of glucokinase activation: observation of multiple distinct protein conformations.
22291974 2012 Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing.
22177951 2012 UCP2 mRNA expression is dependent on glucose metabolism in pancreatic islets.
22096510 2011 Association of six single nucleotide polymorphisms with gestational diabetes mellitus in a Chinese population.
22060211 2012 Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
22043488 2011 MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
22038520 2012 Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.
21978167 2012 The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.
21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
21720051 2011 Detection of glucokinase gene defects in non-obese Japanese children diagnosed with diabetes by school medical examinations.
21604084 2011 The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
21544516 2011 Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
21518409 2011 Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene.
21454584 2011 Glucagon-like peptide 1 stimulates post-translational activation of glucokinase in pancreatic beta cells.
21437567 2011 Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.
21420961 2011 Crystal structure of E339K mutated human glucokinase reveals changes in the ATP binding site.
21348868 2012 Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.
21104275 2011 Insight into the biochemical characteristics of a novel glucokinase gene mutation.
21036910 2011 Association of a fasting glucose genetic risk score with subclinical atherosclerosis: The Atherosclerosis Risk in Communities (ARIC) study.
20979768 2010 [The functional analysis of glucokinase gene E339K mutation].
20889853 2011 Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.
20878480 2010 Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.
20858683 2010 Common variants at 10 genomic loci influence hemoglobin A?(C) levels via glycemic and nonglycemic pathways.
20845477 2011 Glucose metabolism gene polymorphisms and clinical outcome in pancreatic cancer.
20828143 2010 Global fit analysis of glucose binding curves reveals a minimal model for kinetic cooperativity in human glucokinase.
20682688 2010 Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the International Association of Diabetes and Pregnancy Study Groups.
20682687 2010 Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
20668700 2010 Effects of GCK, GCKR, G6PC2 and MTNR1B variants on glucose metabolism and insulin secretion.
20628598 2010 Common polymorphisms in MTNR1B, G6PC2 and GCK are associated with increased fasting plasma glucose and impaired beta-cell function in Chinese subjects.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20587714 2010 Identification of two new mutations in the glucokinase gene that result in maturity-onset diabetes of the young.
20536962 2010 Heterozygous glucokinase mutations and birth weight in Spanish children.
20490451 2010 Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight.
20458967 Characterization of glucokinase polymorphisms associated with maturity-onset diabetes of the young (MODY2) in Jordanian population.
20337973 2010 Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
20227404 2010 The glucokinase gene promoter polymorphism -30G>A (rs1799884) is associated with fasting glucose in healthy pregnant women but not with gestational diabetes.
20185807 2010 Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.
20164212 2010 Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
20144192 2010 Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy.
20132997 2010 Three novel mutations in MODY and its phenotype in three different Czech families.
20081858 2010 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
20015564 2010 A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19937311 2010 Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations.
19934346 2010 Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19884385 2009 Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
19741166 2009 Common genetic determinants of glucose homeostasis in healthy children: the European Youth Heart Study.
19741163 2009 Additive effects of genetic variation in GCK and G6PC2 on insulin secretion and fasting glucose.
19651812 2009 Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type 2 diabetes among Indian Asians and European Caucasians.
19643913 2009 The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
19617908 2009 Lys169 of human glucokinase is a determinant for glucose phosphorylation: implication for the atomic mechanism of glucokinase catalysis.
19578796 2009 Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
19564454 2009 Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.
19551638 2009 Screening of mutations in the GCK gene in Jordanian maturity-onset diabetes of the young type 2 (MODY2) patients.
19533084 2009 Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk.
19515026 2009 An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age.
19473033 2009 23-Residue C-terminal alpha-helix governs kinetic cooperativity in monomeric human glucokinase.
19459610 2009 Binding kinetics of glucose and allosteric activators to human glucokinase reveal multiple conformational states.
19411616 2009 Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
19410318 2009 Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population.
19368707 2009 Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.
19362831 2009 Discovery of novel 3,6-disubstituted 2-pyridinecarboxamide derivatives as GK activators.
19358091 2009 Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients.
19336674 2009 Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.
19282865 2009 Association of polymorphisms of SORBS1, GCK and WISP1 with hypertension in community-dwelling Japanese individuals.
19241058 2009 Association of GCKR rs780094, alone or in combination with GCK rs1799884, with type 2 diabetes and related traits in a Han Chinese population.
19228875 2009 A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome.
19187021 2009 Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type.
19169489 2008 HNF1alpha mutations are present in half of clinically defined MODY patients in South-Brazilian individuals.
19150152 2009 Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.
19146401 2009 Activating mutations in the human glucokinase gene revealed by genetic selection.
19125755 2009 Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation.
19096518 2008 Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.
19073768 2009 Interaction effect of genetic polymorphisms in glucokinase (GCK) and glucokinase regulatory protein (GCKR) on metabolic traits in healthy Chinese adults and adolescents.
19060907 2009 Variants in MTNR1B influence fasting glucose levels.
19018513 2009 The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits.
19002431 2009 Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
18828733 2008 Anthropometry, carbohydrate and lipid metabolism in the East Flanders Prospective Twin Survey: linkage of candidate genes using two sib-pair based variance components analyses.
18811724 2009 Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus.
18809676 2008 Biophysical characterization of the interaction between hepatic glucokinase and its regulatory protein: impact of physiological and pharmacological effectors.
18805788 2008 A combination of HNF-4 and Foxo1 is required for reciprocal transcriptional regulation of glucokinase and glucose-6-phosphatase genes in response to fasting and feeding.
18672310 2008 Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype.
18651836 2008 Glucokinase and molecular aspects of liver glycogen metabolism.
18571549 2008 Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
18556336 2008 The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population.
18498634 2008 The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.
18483479 2008 The -30G>A polymorphism of the glucokinase gene promoter is associated with obesity in a population from southern Spain.
18450771 2008 Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
18411240 2008 Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).
18399931 2008 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
18397317 2008 Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions.
18382660 2008 Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
18370929 2008 Sugar binding to recombinant wild-type and mutant glucokinase monitored by kinetic measurement and tryptophan fluorescence.
18332101 2008 Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes.
18325809 2008 Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
18322640 2008 Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.
18298419 2008 Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.
18271687 2008 Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.
18248649 2008 Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.
18208578 2008 Non-insulinoma persistent hyperinsulinaemic hypoglycaemia caused by an activating glucokinase mutation: hypoglycaemia unawareness and attacks.
18196929 2008 G/A polymorphism at -258 of the hepatic glucokinase promoter is not associated with decreased birth weight in preterm neonates.
18184897 2008 Mutations in the glucokinase gene of the fetus result in reduced placental weight.
18159847 2007 [Glucokinase gene mutations in gestational diabetes in Polish population. Prediction of diabetes mellitus development after delivery].
18039179 2008 A role for PFK-2/FBPase-2, as distinct from fructose 2,6-bisphosphate, in regulation of insulin secretion in pancreatic beta-cells.
18008060 2008 The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes.
17994217 2008 Regulation of insulin secretion, glucokinase gene transcription and beta cell proliferation by adipocyte-derived Wnt signalling molecules.
17976205 2007 Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
17937063 2007 Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel.
17584736 2007 Dissection of a signaling pathway by which pathogen-associated molecular patterns recruit the JNK and p38 MAPKs and trigger cytokine release.
17573900 2007 Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
17561510 2007 Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation.
17389332 2007 Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.
17327436 2007 Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.
17260972 2007 A pre-steady state analysis of ligand binding to human glucokinase: evidence for a preexisting equilibrium.
17216282 2007 The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations.
17186458 2006 A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses.
17186219 2007 Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.
17082186 2006 Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations.
17070428 2006 Assessment of the genetic component of hypertension.
16963153 2007 GCK and HNF1alpha mutations and polymorphisms in Polish women with gestational diabetes.
16936201 2006 Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns.
16752173 2006 Common variants in MODY genes increase the risk of gestational diabetes mellitus.
16632067 2006 Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients.
16444761 Glucokinase mutations in young children with hyperglycemia.
16378108 2005 [Contribution of MODY2 gene to the pathogenesis of Chinese early onset familial type 2 diabetes].
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16331569 2005 [Mutation screening of GCK gene in Chinese early-onset diabetes population].
16186409 2005 A -30G>A polymorphism of the beta-cell-specific glucokinase promoter associates with hyperglycemia in the general population of whites.
16173921 2006 Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability.
15987895 2005 Structure-function analysis of the alpha5 and the alpha13 helices of human glucokinase: description of two novel activating mutations.
15928245 2005 Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.
15918042 2005 Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly.
15841481 2005 Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).
15677518 2005 Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene.
15677479 2005 Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15305805 2004 Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).
15277402 2004 Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
15173029 2004 G(-30)A polymorphism in the pancreatic promoter of the glucokinase gene associated with angiographic coronary artery disease and type 2 diabetes mellitus.
15016359 2004 Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase.
15009676 2004 Expression of glucose transporter isoform GLUT-2 and glucokinase genes in human brain.
14747279 2004 Hexokinase II overexpression improves exercise-stimulated but not insulin-stimulated muscle glucose uptake in high-fat-fed C57BL/6J mice.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14627435 2004 Differences in regulatory properties between human and rat glucokinase regulatory protein.
14617577 2004 A potential role for fructose-2,6-bisphosphate in the stimulation of hepatic glucokinase gene expression.
14578306 2003 Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.
14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
12941786 2003 Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12627330 2003 Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.
12515438 2002 Polymorphisms in genes involved in glucose metabolism in cases of sudden infant death syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12442280 2002 GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).
12101177 2002 A functional link between glucokinase binding to insulin granules and conformational alterations in response to glucose and insulin.
12050210 2002 Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.
11772903 2002 Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus.
11756407 2002 Identification of fructose 6-phosphate- and fructose 1-phosphate-binding residues in the regulatory protein of glucokinase.
11522786 2001 Characterization of glucokinase-binding protein epitopes by a phage-displayed peptide library. Identification of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase as a novel interaction partner.
11473043 2001 Treatment of type 2 diabetes by adenoviral-mediated overexpression of the glucokinase regulatory protein.
11440371 2001 Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination?
11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.
11237213 2001 Cell-specific roles of glucokinase in glucose homeostasis.
11112984 2000 Hepatic glucokinase promoter polymorphism is associated with hepatic insulin resistance in Asian Indians.
11106831 2000 Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.
10694920 1998 Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.
10601273 1999 Nuclear import of hepatic glucokinase depends upon glucokinase regulatory protein, whereas export is due to a nuclear export signal sequence in glucokinase.
10588527 1999 Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.
10456334 1999 Glucokinase regulatory protein is essential for the proper subcellular localisation of liver glucokinase.
9662401 1998 Mutations in the glucokinase gene of the fetus result in reduced birth weight.
9570959 1998 Organization of the human glucokinase regulator gene GCKR.
9469993 1998 Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.
9435328 1998 Familial hyperinsulinism caused by an activating glucokinase mutation.
9270716 1997 Glucose-6-phosphatase structure, regulation, and function: an update.
9049484 1997 Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
9000692 1997 Glucokinase regulatory protein may interact with glucokinase in the hepatocyte nucleus.
8878425 1996 Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.
8626423 1996 Amino acid conservation in animal glucokinases. Identification of residues implicated in the interaction with the regulatory protein.
8549853 1996 Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit.
8495817 1993 Identification of glucokinase mutations in subjects with gestational diabetes mellitus.
8454109 1993 Glucokinase gene variants in the common form of NIDDM.
8446612 1993 Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.
8433729 1993 Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.
8376578 1993 Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.
8325892 1993 Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.
8194664 1994 Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B.
8168652 1994 Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.
8132752 1994 Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations.
8094164 1993 Non-sense mutation of glucokinase gene.
8094163 1993 Non-sense mutation of glucokinase gene.
1871135 1991 Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.
1740342 1992 A 2-cM genetic linkage map of human chromosome 7p that includes 47 loci.
1740341 1992 A polymorphic (CA)n repeat element maps the human glucokinase gene (GCK) to chromosome 7p.
1612194 1992 Human islet glucokinase gene. Isolation and sequence analysis of full-length cDNA.
1570017 1992 Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.
1545870 1992 Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.
1511800 1992 Human pancreatic beta-cell glucokinase: cDNA sequence and localization of the polymorphic gene to chromosome 7, band p 13.
1502186 1992 Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.
1464666 1992 Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.
1397713 1992 Glucokinase and NIDDM. A candidate gene that paid off.
1360036 1992 Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus.
1354840 1992 Human glucokinase gene: isolation, structural characterization, and identification of a microsatellite repeat polymorphism.
1349989 1992 Linkage of type 2 diabetes to the glucokinase gene.
1303265 1992 Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.