NAGS Chromosome 17

N-acetylglutamate synthase
106 variants 106 Health Risk

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
RS2509285182 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509285208 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509285270 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509285298 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS375079065 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS730880303 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS760267963 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS771090802 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS777810717 Health Risk Likely pathogenic —
RS781031762 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS104894604 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS104894606 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS104894607 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS1214956593 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS121912591 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS1309298089 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS1345709988 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS1597866458 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049059647 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049060332 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049086224 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049097522 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049106859 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143978288 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143978561 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143978628 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143978844 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143980093 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143980228 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143984711 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143985704 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509277154 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509277257 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509277315 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509277941 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509279402 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509279497 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509281503 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509281618 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509283811 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509283908 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS730880266 Health Risk Pathogenic Hyperammonemia, type III, Inborn genetic diseases
RS730880267 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS764150659 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS764793347 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS942089643 Health Risk Pathogenic Hyperammonemia, type III, Hyperammonemia
RS1256337877 Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049079486 Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049106256 Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509277864 Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III, Hyperammonemia
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