疾病相关Defects in AGXT are the cause of hyperoxaluria primary type 1 (HP1) [MIM:259900]; also known as primary hyperoxaluria type I (PH1) and oxalosis I. HP1 is a rare autosomal recessive inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and the progressive accumulation of insoluble calcium oxalate in the kidney and urinary tract.
序列相似性Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.
细胞定位Peroxisome. Mitochondrion matrix. Except in some HP1 patients where AGT is found in the mitochondrial matrix.