Property Summary

NCBI Gene PubMed Count 86
PubMed Score 450.02
PubTator Score 1115.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -2.663 1.8e-02

 GWAS Trait (1)

Gene RIF (59)

PMID Text
26693850 Letter/Case Report: novel missense AGXT gene mutation in a Sri Lankan family with primary hyperoxaluria type 1.
26383609 Primary hyperoxaluria type 1 (PH1) is due to a defect in the AGXT gene. The aim of our study was to analyze the mutations causing PH1 in the Moroccan population
26149463 The pathogenic mutation G47R causes misfolding of alanine:glyoxylate aminotransferase.
25620715 A review of the current knowledge of the biochemical properties of liver peroxisomal alanine:glyoxylate aminotransferase and of the molecular defects caused by single point mutations associated with Primary Hyperoxaluria Type 1.
25237136 Data suggest that dequalinium chloride (DECA) may be a pharmacologic strategy to treat primary hyperoxaluria 1 (PH1) patients with mutations in alanine:glyoxylate aminotransferase (AGT).
24990153 S81L and G170R mutations of AGT is associated with Primary Hyperoxaluria type I in homozygosis and heterozygosis.
24988064 In conclusion, this study of an unprecedented number of primary hyperoxaluria type 1 patients showed geno-phenotype associations that have not been previously reported.
24934730 These are the first cases of primary hyperoxaluria type 1 to be diagnosed by clinical manifestations and AGXT gene mutations in mainland China.
24718375 AGT missense mutations associated with Primary Hyperoxaluria Type 1, were characterized.
24344980 data imply that the AGT Pro11Leu polymorphism is not directly responsible for the low incidence of stone formation in black South Africans.
24205397 Modeling of the mutations on a 1.9 A crystal structure suggests that Primary hyperoxaluria type I causing mutants perturb locally the native structure of AGT.
24055001 Gly161 mutations in alanine:glyoxylate aminotransferase is associated with Primary Hyperoxaluria Type I.
24012869 Identification of a double mutation c.32C>T (Pro11Leu) and c.731T>C (p.Ile244Thr) in AGXT gene in five unrelated Tunisian families with primary hyperoxaluria type 1 disease.
23956997 The view presented has important implications for the development of new therapeutic strategies based on targeting specific elements of alanine-glyoxylate aminotransferase homeostasis
23810941 Three novel mutations detected in the AGXT gene associated with primary hyperoxaluria type 1 in a Tunisian patient population.
23589421 Solved is the X-ray crystal structure of the S187F variant of AGT to a resolution of 2.9 A.
23229545 Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele
22529745 The molecular mechanism of recognition by the peroxisomal receptor Pex5p, in complex with alanine-glyoxylate aminotransferase revealed by X-ray crystallography.
22201765 selected aspects of the biochemical properties of the two allelic forms of AGXT and of some primary hyperoxaluria type 1-causing variants (review)
22198249 These results suggest that the N-terminal extension plays an essential role in allowing AGT to attain its correct conformation and functional activity.
22018727 A side-by-side comparison was performed between normal AGT and nine purified recombinant pathogenic variants in terms of catalytic activity, coenzyme binding mode and affinity, spectroscopic features, oligomerization, and thermal stability.
21612638 Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.
21103899 Partially unfolded states of AGXT strongly interact with Hsc70 and Hsp90 chaperones.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20734048 Observational study of gene-disease association. (HuGE Navigator)
20713123 Data show that P11L mutation is responsible for the urea sensitivity of AGT-Mi.
20308030 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20208150 crystal structure of AGT consists of an intimate dimer in which an extended N-terminal segment of 21 amino acids from one subunit wraps as an elongated irregular coil around the outside of the crystallographic symmetry-related subunit.
20133649 Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I.
20059472 investigated occurrence of Pro11Leu polymorphism in both herder & agriculturalist populations from Central Asia; findings show distribution of variation observed in the AGXT gene could be due to demographic history, rather than local adaptation to diet
20056599 3D picture of an in vivo early ATP-dependent step of the folding reaction cycle of the chaperonin and supports a GroEL functional model in which the chaperonin promotes folding of the AGXT-LTM mutant protein through forced unfolding mechanism
20020206 mutation of the AGXT gene, showing the patient to be compound heterozygous for the c.33_34InsC and c.508G > A mutations
20016466 Genotype-phenotype correlation in primary hypoxaluria type 1: the p. Gly170Arg AGXT mutation is associated with a better outcome.
20016466 Observational study of gene-disease association. (HuGE Navigator)
19887726 Results compare assay methods and conditions for human liver alanine:glyoxylate aminotransferase activity.
19155213 the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.
18782763 stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase
18492492 calculated interaction energies of L-cysteine, L-alanine and L-serine docked at the active site
18468259 The environmental and life-style conditions of the Kola Sami could have influenced the population-specific frequencies of the AGXTProIILeu allele
18468259 Observational study of genotype prevalence. (HuGE Navigator)
18448374 Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands.
18289107 Results report for the first time the expression of untagged alanine-glyoxylate aminotransferase together with a new rapid protocol for its purification.
17495019 Observational study of genetic testing. (HuGE Navigator)
17495019 Selective exon sequencing can allow a definitive diagnosis in 50% of PH1 patients.
17460142 Observational study of genetic testing. (HuGE Navigator)
17460142 AGXT is even more variable than formerly believed in the diagnosis of primary hyperoxaluria
17110443 expressed wild-type human AGT1 was predominantly localized in mouse hepatocellular peroxisomes, whereas the most common mutant form of AGT1 (G170R) was localized predominantly in the mitochondria
16971151 The effects of missense mutations on enzyme activity, dimerization, aggregation, and turnover were investigated.
16912707 Presentation and role of transplantation [kidney and/or liver] in adult patients with type 1 primary hyperoxaluria and the 1244T AGXT mutation in a university hospital in Spain are presented.
15961951 Determination of crystal structure of AGT has enabled effects of some of most important missense mutations in AGXT gene to be rationalised in terms of AGT folding, dimerization and stability. New possibilities for design of pharmacological agents.
15911627 human AGT interacts with human Pex5p in mammalian cells, but not yeast cells; type 1 peroxisomal targeting sequence(PTS1)is located entirely within the smaller C-terminal structural domain of 110 amino acids
15849466 Observational study of gene-disease association. (HuGE Navigator)
15802217 mutations with serious consequences in vivo may not be inherently catalytically inactive and may be rescuable
15365967 report describing 3 AGXT gene mutations in Chinese patients with primary hyperoxaluria type 1
15327387 Observational study of gene-disease association. (HuGE Navigator)
15253729 Early detection of Gly170Arg and Phe152Ile mutations in PH1 has important clinical implications because of their association with pyridoxine responsiveness and clinical outcome
12899834 crystal structure of normal human AGT complexed to the competitive inhibitor amino-oxyacetic acid to 2.5A
12169688 serine:pyruvate aminotransferase expression is regulated by Sp1, AP-2 and PKA
11562405 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQT      1 - 70
RNPLTLVISGSGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVE     71 - 140
EGLAQHKPVLLFLTHGESSTGVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKA    141 - 210
LNAPPGTSLISFSDKAKKKMYSRKTKPFSFYLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIA    211 - 280
EQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRDIVSYVIDHFDIEIMGG    281 - 350
LGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL                                351 - 392
//

Text Mined References (94)

PMID Year Title
26693850 2016 Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1.
26383609 2015 AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
26149463 2015 Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.
25620715 2015 Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.
25237136 2014 Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1.
24990153 2014 S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
24988064 2014 Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
24934730 2014 Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24718375 2014 Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.
24344980 2014 Variability in kidney stone incidence between black and white South Africans: AGT Pro11Leu polymorphism is not a factor.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24205397 2013 The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I.
24055001 2013 Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
24012869 2013 A double mutation in AGXT gene in families with primary hyperoxaluria type 1.
23956997 2013 Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.
23810941 2013 Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
23589421 2013 Crystal structure of the S187F variant of human liver alanine: glyoxylate [corrected] aminotransferase associated with primary hyperoxaluria type I and its functional implications.
23229545 2013 Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
22529745 2012 Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1.
22201765 2012 Molecular insights into primary hyperoxaluria type 1 pathogenesis.
22198249 2012 The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase.
22018727 2012 Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.
21612638 2011 Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.
21103899 2011 Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20734048 2011 Phase II study of biweekly S-1 and oxaliplatin combination chemotherapy in metastatic colorectal cancer and pharmacogenetic analysis.
20713123 2010 Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant.
20308030 2010 Associations between glutathione S-transferase pi Ile105Val and glyoxylate aminotransferase Pro11Leu and Ile340Met polymorphisms and early-onset oxaliplatin-induced neuropathy.
20208150 2010 Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting.
20178365 2010 A proteome-wide perspective on peroxisome targeting signal 1(PTS1)-Pex5p affinities.
20133649 2010 Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I.
20059472 2010 Frequency of the AGT Pro11Leu polymorphism in humans: Does diet matter?
20056599 2010 Structure of GroEL in complex with an early folding intermediate of alanine glyoxylate aminotransferase.
20020206 2010 Late diagnosis of primary hyperoxaluria after failed kidney transplantation.
20016466 2010 Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.
19887726 2009 Assay of alanine:glyoxylate aminotransferase in human liver by its serine: glyoxylate aminotransferase activity.
19479957 2009 Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
19155213 2009 Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.
18782763 2008 In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.
18492492 2008 Reactions of human liver peroxisomal alanine:glyoxylate aminotransferase with beta-chloro-L-alanine and L-cysteine: spectroscopic and kinetic analysis.
18468259 2008 Genes related to the metabolism of nutrients in the Kola Sami population.
18448374 2008 Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants.
18289107 2008 Construction, purification and characterization of untagged human liver alanine-glyoxylate aminotransferase expressed in Escherichia coli.
17696873 2007 Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications.
17495019 2007 Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
17460142 2007 Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
17110443 2006 Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer.
16971151 2006 Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
16912707 2006 Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
15963748 The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
15961951 Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
15961946 Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
15956068 2005 Primary hyperoxaluria: from gene defects to designer drugs?
15911627 2005 Peroxisomal import of human alanine:glyoxylate aminotransferase requires ancillary targeting information remote from its C terminus.
15849466 Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15802217 2005 Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15365967 Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.
15327387 2004 Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
15253729 2004 Clinical implications of mutation analysis in primary hyperoxaluria type 1.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12899834 2003 Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.
12777626 2003 Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.
12559847 2003 The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12169688 2002 The role of Sp1 and AP-2 in basal and protein kinase A--induced expression of mitochondrial serine:pyruvate aminotransferase in hepatocytes.
11562405 2001 AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.
11085934 2000 The peroxisomal targeting sequence type 1 receptor, Pex5p, and the peroxisomal import efficiency of alanine:glyoxylate aminotransferase.
10960483 2000 Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
10862087 2000 Identification of 5 novel mutations in the AGXT gene.
10541294 1999 Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.
10453743 1999 Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
10394939 1999 Gene symbol: AGXT. Disease: primary hyperoxaluria type I.
9604803 Identification of new mutations in primary hyperoxaluria type 1 (PH1).
9192270 1997 Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
9053548 1995 Immunocytochemical localization of peroxisomal proteins in human liver and kidney.
8906307 1996 Liver specific kynurenine(alanine):glyoxylate aminotransferase was expressed in kidney cell line.
8507692 1993 Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.
8101040 1993 Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
8034295 1994 Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.
7813517 1994 Evolution of alanine:glyoxylate aminotransferase 1 peroxisomal and mitochondrial targeting. A survey of its subcellular distribution in the livers of various representatives of the classes Mammalia, Aves and Amphibia.
3709805 1986 Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
3418107 1988 Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1.
2363689 1990 Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.
2253628 1990 Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase.
2045108 1991 Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase.
2039493 1991 Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.
1961759 1991 Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.
1703535 1990 Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.
1349575 1992 A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.
1301173 1992 A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.