Title : N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.

Pub. Date : 2011 Oct

PMID : 21681857






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 N-acetylglutamate synthase (NAGS) catalyzes the conversion of glutamate and acetyl-CoA to NAG, the essential allosteric activator of carbamyl phosphate synthetase I, the first urea cycle enzyme in mammals. Glutamic Acid N-acetylglutamate synthase Homo sapiens