AGXT Antibody – Rabbit Polyclonal

This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]

AGXT: 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.

Protein type: EC 2.6.1.51; Transferase; Mitochondrial; EC 2.6.1.44; Amino Acid Metabolism - alanine, aspartate and glutamate; Motility/polarity/chemotaxis; Amino Acid Metabolism - glycine, serine and threonine

Chromosomal Location of Human Ortholog: 2q37.3

Cellular Component: mitochondrial matrix; peroxisomal matrix; peroxisome

Molecular Function: alanine-glyoxylate transaminase activity; amino acid binding; protein binding; protein homodimerization activity; protein self-association; pyridoxal phosphate binding; receptor binding; serine-pyruvate transaminase activity; transaminase activity

Biological Process: glycine biosynthetic process, by transamination of glyoxylate; glyoxylate catabolic process; glyoxylate metabolic process; L-alanine catabolic process; L-cysteine catabolic process; Notch signaling pathway; oxalic acid secretion; proteasomal protein catabolic process; pyruvate biosynthetic process; response to cAMP; response to glucocorticoid stimulus

Disease: Hyperoxaluria, Primary, Type I