N-Acetylglutamate synthase

N-acetylglutamate synthase is an enzyme that catalyses the production of N-acetylglutamate from acetyl-CoA and glutamate.

This enzyme is important in bacteria and plants for the synthesis of arginine, an amino acid in the pathway.

This enzyme is also important for mammals, because it produces the regulator of urea cycle N-acetylglutamate, which activates carbamoyl phosphate synthetase I, which catalyses the initial reactions of urea cycle.

Clinical significance

Mutations in the gene are associated with N-Acetylglutamate synthase deficiency.

References

• Lehninger principles of biochemistry, 4th edition, David L. Nelson, Michael M. Cox

External links

• GeneReviews/NCBI/NIH/UW entry on Urea Cycle Disorders Overview
• MeSH N-Acetylglutamate+Synthase