Property Summary

NCBI Gene PubMed Count 86
Grant Count 170
R01 Count 122
Funding $27,027,707.34
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 0.018

Synonym

Accession P21549 Q53QU6 SPT
Symbols AGT
PH1
SPT
AGT1
SPAT
TLH6
AGXT1

Gene

PANTHER Protein Class (2)

PDB

3R9A   4KXK   4KYO   1H0C   1J04   2YOB   4CBR   4CBS   4I8A  

 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.
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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.
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