AGXT Antibody – Mouse Monoclonal

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

Chromosomal Location of Human Ortholog: 2q37.3

Cellular Component: peroxisomal matrix; mitochondrial matrix; peroxisome

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

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

Disease: Hyperoxaluria, Primary, Type I