Gene Symbol | NAGS |
Entrez Gene ID | 162417 |
Full Name | N-acetylglutamate synthase |
Synonyms | AGAS,ARGA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | N-acetylglutamate synthase deficiency, 237310 (3) |