N-Acetylglutamate Synthase (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.

NAGS gene, which encodes a deduced 534-amino acid protein with a molecular mass of 58.1 kD. NAGS contains an N-terminal mitochondrial targeting signal, a variable domain, and a 440-amino acid C-terminal conserved domain that shares 92% identity with the conserved domain of mouse Nags.