N-acetylglutamate synthase, mitochondrial (amino-acid acetyltransferase, [Contains: N-acetylglutamate synthase long form; N-acetylglutamate synthase short form; N-acetylglutamate synthase conserved domain form], NAGS)

Function

• role in the regulation of ureagenesis via producing variable amounts of N-acetylglutamate, thus modulating carbamoylphosphate synthase 1 (CPSI) activity
• activity increased by L-arginine
• urea cycle
• processed by mitochondrial processing peptidase (probable)

Acetyl-CoA + L-glutamate <--> CoA + N-acetyl-L-glutamate

Structure

• belongs to the acetyltransferase family.
• contains 1 N-acetyltransferase domain

Compartment

mitochondrial matrix

Expression

• expressed in the adult liver, kidney,small intestine > fetal liver, lung, pancreas, placenta, heart, brain

Pathology

• defects in NAGS are the cause of N-acetylglutamate synthase deficiency

More general terms

• enzyme

Database

• OMIM: https://mirror.omim.org/entry/237310
• OMIM: https://mirror.omim.org/entry/608300
• UniProt: http://www.uniprot.org/uniprot/Q8N159.html