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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:
1) role in the regulation of ureagenesis via producing variable amounts of N-acetylglutamate, thus modulating carbamoylphosphate synthase 1 (CPSI) activity
2) activity increased by L-arginine
3) urea cycle
4) processed by mitochondrial processing peptidase (probable)
Acetyl-CoA + L-glutamate CoA + N-acetyl-L-glutamate
Structure:
1) belongs to the acetyltransferase family.
2) 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
Related
NAGS gene mutation
General
enzyme
Properties
SIZE: MW = 58 kD
entity length = 534 aa
COMPARTMENT: mitochondrial matrix
MOTIF: N-acetyltransferase {378-528}
Database Correlations
OMIM correlations
MORBIDMAP 608300
UniProt Q8N159
Pfam PF04768
ENZYME 2.3.1.1
References
- UniProt :accession Q8N159
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NAGS