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MGP000104

UniProt Annotations

Entry Information
Gene Namealanine-glyoxylate aminotransferase
Protein EntrySPYA_HUMAN
UniProt IDP21549
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityL-alanine + glyoxylate = pyruvate + glycine.
Catalytic ActivityL-serine + pyruvate = 3-hydroxypyruvate + L- alanine.
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
DiseaseHyperoxaluria primary 1 (HP1) [MIM:259900]: An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease. {ECO:0000269|PubMed:10394939, ECO:0000269|PubMed:10453743, ECO:0000269|PubMed:10541294, ECO:0000269|PubMed:10862087, ECO:0000269|PubMed:12559847, ECO:0000269|PubMed:1301173, ECO:0000269|PubMed:1349575, ECO:0000269|PubMed:15253729, ECO:0000269|PubMed:15849466, ECO:0000269|PubMed:15961946, ECO:0000269|PubMed:15963748, ECO:0000269|PubMed:1703535, ECO:0000269|PubMed:2039493, ECO:0000269|PubMed:8101040, ECO:0000269|PubMed:9192270, ECO:0000269|PubMed:9604803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PolymorphismPolymorphism at position 11 acts synergistically with different mutations in AGXT producing specific enzymic phenotypes in HP1 patients. The combined presence of Leu-11 and Met-340 polymorphisms defines the minor AGXT allele, whereas their absence defines the major allele. The minor allele has frequencies of 20% in normal European and North American populations, and 50% in HP1 patients.
SimilarityBelongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. {ECO:0000305}.
Subcellular LocationPeroxisome. Mitochondrion matrix. Note=Except in some HP1 patients where AGT is found in the mitochondrial matrix.
SubunitHomodimer. {ECO:0000269|PubMed:12899834}.
Tissue SpecificityLiver.
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