The NAGS gene provides instructions for making the enzyme N-acetylglutamate synthase. This enzyme is needed for the urea cycle, a series of reactions that occurs in liver cells. The urea cycle breaks down excess nitrogen, which is made when protein is used by the body, into a compound called urea. Urea is removed from the body in urine. Removing the excess nitrogen prevents it from accumulating in the form of ammonia, which is toxic at high levels, especially to the brain.
N-acetylglutamate synthase controls the production of a compound called N-acetylglutamate in the mitochondria, the energy-producing centers in cells. N-acetylglutamate is necessary to turn on the enzyme carbamoyl phosphate synthetase I. This enzyme controls the first step of the urea cycle, in which excess nitrogen compounds are incorporated into the cycle to be broken down.
Other Names
ARGA; MGC133025; NAGS_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 162417
- OMIM: 608300
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
