Aliases for NAGS Gene
External Ids for NAGS Gene
Previous GeneCards Identifiers for NAGS Gene
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]
GeneCards Summary for NAGS Gene
NAGS (N-Acetylglutamate Synthase) is a Protein Coding gene. Diseases associated with NAGS include N-Acetylglutamate Synthase Deficiency and Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Metabolism. GO annotations related to this gene include transferase activity and acetyl-CoA:L-glutamate N-acetyltransferase activity.
UniProtKB/Swiss-Prot for NAGS Gene
Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity.