NAGS Chromosome 17
N-acetylglutamate synthase
Upload your DNA to see your personal genotypes for variants in NAGS.
What This Gene Does
The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
GCN5 related N-acetyltransferases
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000161653
Associated Conditions (4)
Hyperammonemia
type III
NAGS-related disorder
Inborn genetic diseases
Key Variants
RS139907815
Conflicting classifications of pathogenicity
Hyperammonemia, type III, NAGS-related disorder
Health Risk
RS140481641
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Hyperammonemia
Health Risk
RS1418729056
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Hyperammonemia
Health Risk
RS150004962
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Hyperammonemia
Health Risk
RS185863881
Conflicting classifications of pathogenicity
Hyperammonemia, type III, NAGS-related disorder
Health Risk
RS199976538
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Hyperammonemia
Health Risk
RS201142696
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Hyperammonemia
Health Risk
RS202041339
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Inborn genetic diseases
Health Risk
RS2049072767
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Hyperammonemia
Health Risk
RS2049080644
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Hyperammonemia
Health Risk
RS2509280602
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Hyperammonemia
Health Risk
RS371886833
Conflicting classifications of pathogenicity
Hyperammonemia, type III, Hyperammonemia
Health Risk
All Variants (106)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2509283438 | Health Risk | Pathogenic/Likely pathogenic | Hyperammonemia, type III, Hyperammonemia |
| RS748875458 | Health Risk | Pathogenic/Likely pathogenic | Hyperammonemia, type III, Hyperammonemia |
| RS755257734 | Health Risk | Pathogenic/Likely pathogenic | Hyperammonemia, type III, Hyperammonemia |
| RS761558985 | Health Risk | Pathogenic/Likely pathogenic | Hyperammonemia, type III, Inborn genetic diseases |
| RS762205848 | Health Risk | Pathogenic/Likely pathogenic | Hyperammonemia, type III, Hyperammonemia |
| RS886042831 | Health Risk | Pathogenic/Likely pathogenic | Hyperammonemia, type III, Hyperammonemia |