Full name: N-acetylglutamate synthase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AGAS; ARGA

Summary: 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]

Expression: Biased expression in duodenum (RPKM 7.8), small intestine (RPKM 6.4) and 8 other tissues

Gene size: 4447bp

Exon count: 7