Entrez gene ID | | 162417 |
Official gene symbol | | NAGS |
Full name | | N-acetylglutamate synthase |
Aliases | | ,AGAS,ARGA,MGC133025, |
Gene 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] |
Location | | Chromosome: 17 Locus: 17q21.31 |
Gene position | | 42082032 - 42086436 Map Viewer |
Gene orientation | | plus |
Gene size | | 4405 bp |
Gene sequence |
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OMIM ID | | 608300 |
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