NAGS Antibody – Rabbit Polyclonal

The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]

NAGS: Plays a role in the regulation of ureagenesis by producing variable amounts of N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity. Defects in NAGS are the cause of N-acetylglutamate synthase deficiency (NAGSD). NAGSD is a rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. Belongs to the acetyltransferase family.

Protein type: Acetyltransferase; Mitochondrial; Amino Acid Metabolism - arginine and proline; EC 2.3.1.1

Chromosomal Location of Human Ortholog: 17q21.31

Cellular Component: mitochondrial matrix

Molecular Function: amino-acid N-acetyltransferase activity

Biological Process: glutamate metabolic process; arginine biosynthetic process; urea cycle

Disease: N-acetylglutamate Synthase Deficiency