Property Summary

NCBI Gene PubMed Count 49
PubMed Score 303.88
PubTator Score 186.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -2.273 3.9e-07
pancreatic ductal adenocarcinoma liver m... -1.124 4.8e-02

Protein-protein Interaction (4)

Gene RIF (23)

PMID Text
26071121 Mutations in GCDH gene observed in the present study indicate genetic heterogeneity in GCDH gene among South Indian population. No definite genotype-phenotype correlations were observed.
25863083 Point mutation of GCDH gene is associated with glutaric academia type I.
25297592 Data indicate a homozygous c.1244-2A> C mutation of the glutaryl-CoA dehydrogenase (GCDH) gene in both patients.
24973495 2 novel mutations, p.Glu64Asp and p.Gly268Val, account for majority of disease alleles in Cypriot patients with Glutaric aciduria type I; a founder effect for the p.Glu64Asp and the p.Gly268Val can be suggested based on place of origin of mutation carriers
24332224 29 GCDH mutations were identified in 23 glutaric aciduria type 1 patients, including 11 novel mutations
23225040 Identification of GCDH gene mutations in four patients with glutaric academia type I.
22231382 These cells displayed decreased levels of GCDH tetramer.
21968293 physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of GCDH and prevented enzymatic activity loss
21912879 A homozygous, disease-segregating mutation (p.Val400Met) was identified in the glutaryl-CoA dehydrogenase (GCDH) gene at chromosome 19p13.
21811973 GCDH gene mutations are identified in 8 patients with glutaric aciduria type I
20877624 Observational study of gene-disease association. (HuGE Navigator)
20732827 12 glutaric aciduria type 1 patients were found homozygous for the same A293T mutation in the glutaryl-CoA dehydrogenase (GCDH) gene.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20514322 mutational analysis of glutaryl-CoA dehydrogenase in two patients with glutaric aciduria type 1.
20032085 Cerebral toxicity caused by GCDH deficiency may induce a state of arteriolar dilation and increased cerebral blood volume.
19913121 Observational study of gene-disease association. (HuGE Navigator)
18775954 Expression studies of four missense mutations in GCDH indicate that both enzyme instability and impaired enzyme function can underlie the autosomal recessive neurometabolic disorder glutaric aciduria type I.
17661081 GA I is caused by mutations in the GCDH gene, encoding glutaryl-CoA dehydrogenase.
17176108 The major rate-determining step in the steady-state turnover of glutaryl-CoA dehydrogenase (GCD) occurs at the release of crotonyl-CoA product; the chemical steps and reoxidation of reduced FAD are much faster than the turnover of wild-type GCD.
16368216 An autosomal recessive disease thsat leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency, (review)
15985591 The authors report two GCDH-deficient patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.
15274622 Three-dimensional structures of human GCD in uncomplexed form and in complex with 4-nitrobutyryl-CoA are reported, and the structural bases for the mechanisms of the dehydrogenation and decarboxylation reactions are proposed.
11705404 In the oxidative decarboxylation of glutaryl-coenzyme A (CoA) that is catalyzed by glutaryl-CoA dehydrogenase, glutaconyl-CoA is the presumed enzyme-bound intermediate.

AA Sequence

MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDT      1 - 70
FRTYCQERLMPRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSA     71 - 140
MSVQSSLVMHPIYAYGSEEQRQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTK    141 - 210
TWITNSPMADLFVVWARCEDGCIRGFLLEKGMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGA    211 - 280
SSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRMQFGVPLARNQLIQKKLADMLTEITLGLHAC    281 - 350
LQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHVIRHAMNLEAVNTYEGTHDIH    351 - 420
ALILGRAITGIQAFTASK                                                        421 - 438
//

Text Mined References (55)

PMID Year Title
26071121 2016 Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25863083 2015 [Mutation analysis of GCDH gene in four patients with glutaric academia type I].
25416781 2015 Human METTL20 is a mitochondrial lysine methyltransferase that targets the ? subunit of electron transfer flavoprotein (ETF?) and modulates its activity.
25297592 2014 [Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].
25187353 2014 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
24973495 2014 Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24332224 2014 Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23395213 2013 Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
23225040 2012 [Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].
22231382 2012 Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.
21968293 2011 Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
21944461 2011 The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.
21912879 2012 Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
21811973 2011 [Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I].
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20732827 Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
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.
20514322 2010 Glutaric aciduria type 1 in Korea: report of two novel mutations.
20032085 2010 Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
18775954 2008 Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
18020372 2007 The effect of a Glu370Asp mutation in glutaryl-CoA dehydrogenase on proton transfer to the dienolate intermediate.
17661081 2008 Outcome of three cases of untreated maternal glutaric aciduria type I.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17176108 2006 Kinetic mechanism of glutaryl-CoA dehydrogenase.
16368216 2006 Glutaric aciduria types I and II.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
15985591 2005 Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15274622 2004 Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions.
15057824 2004 The DNA sequence and biology of human chromosome 19.
14707522 2003 Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11705404 2001 Binding, hydration, and decarboxylation of the reaction intermediate glutaconyl-coenzyme A by human glutaryl-CoA dehydrogenase.
10985795 2000 Proton abstraction reaction, steady-state kinetics, and oxidation-reduction potential of human glutaryl-CoA dehydrogenase.
10960496 2000 Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
10699052 2000 Mutation analysis in glutaric aciduria type I.
9711871 1998 Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
9600243 1998 The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
8900228 1996 Glutaric aciduria type I in the Arab and Jewish communities in Israel.
8900227 1996 Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
8541831 1995 Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
8088809 1994 Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis.
7795610 1995 A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.
7490088 1995 Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene.
6423663 1984 Specific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients.
3081514 1986 The purification and characterization of glutaryl-coenzyme A dehydrogenase from porcine and human liver.
1438360 1992 Pork and human cDNAs encoding glutaryl-CoA dehydrogenase.