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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.
Gene Name: | N-acetylglutamate synthase |
Synonyms: | NAGS, Amino-acid acetyltransferase, AGAS, N-acetylglutamate synthase, NAT7, ARGA |
Target Sequences: | NP_694551.1 Q8N159 |
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