AGXT
Function
Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the transamination between L-serine and pyruvate and contributes to gluconeogenesis from the L-serine metabolism (PubMed:10347152).
Involvement in disease
Hyperoxaluria primary 1
HP1
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.
Tissue Specificity
Liver.
Cellular localization
- Peroxisome
Alternative names
AGT1, SPAT, AGXT, Alanine--glyoxylate aminotransferase, AGT, Serine--pyruvate aminotransferase, SPT