NAGS

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]

Full Name

N-Acetylglutamate Synthase

Function

Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity.

Biological Process

Arginine biosynthetic process Source: GO_Central
Glutamate metabolic process Source: GO_Central
Urea cycle Source: Reactome

Cellular Location

Mitochondrion matrix

Involvement in disease

N-acetylglutamate synthase deficiency (NAGSD):
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.

PTM

Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated (By similarity).