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MT000018

UniProt Annotations

Entry Information

Gene Name	alanine-glyoxylate aminotransferase
Protein Entry	SPYA_HUMAN
UniProt ID	P21549
Species	Human

Comments

Comment type	Description
Catalytic Activity	L-alanine + glyoxylate = pyruvate + glycine.
Catalytic Activity	L-serine + pyruvate = 3-hydroxypyruvate + L- alanine.
Cofactor	Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
Disease	Hyperoxaluria 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.
Polymorphism	Polymorphism 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.
Similarity	Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. {ECO:0000305}.
Subcellular Location	Peroxisome. Mitochondrion matrix. Note=Except in some HP1 patients where AGT is found in the mitochondrial matrix.
Subunit	Homodimer. {ECO:0000269\|PubMed:12899834}.
Tissue Specificity	Liver.