Defects in AGXT are the cause of hyperoxaluria primary type 1 (HP1); 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. Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis; EC 18.104.22.168; Mitochondrial; Amino Acid Metabolism - alanine, aspartate and glutamate; Transferase; EC 22.214.171.124; Amino Acid Metabolism - glycine, serine and threonine
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.