NAGS, Official Symbol NAGSprovided by HGNC Official Full Name N-acetylglutamate synthaseprovided by HGNC Primary source HGNC:HGNC:17996 See related Ensembl:ENSG00000161653 MIM:608300; AllianceGenome:HGNC:17996 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all