NAGS Chromosome 17

N-acetylglutamate synthase
106 variants 106 Health Risk

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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
RS139907815 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, NAGS-related disorder
RS140481641 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS1418729056 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS150004962 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS185863881 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, NAGS-related disorder
RS199976538 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS201142696 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS202041339 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Inborn genetic diseases
RS2049072767 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS2049080644 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS2509280602 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS371886833 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS745511282 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS747154237 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS748046278 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS759076608 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Inborn genetic diseases
RS767368629 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS777697766 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperammonemia, type III
RS780510141 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Inborn genetic diseases
RS886052982 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS886507459 Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III, Hyperammonemia
RS1011767739 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS104894605 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS1064793209 Health Risk Likely pathogenic —
RS1163895765 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS1235142426 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS1282296585 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS1319006991 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS1327031845 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS1356073892 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS1482475314 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS1567941557 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS1597866317 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049082368 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049089565 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2049097502 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143971140 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143989504 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143989613 Health Risk Likely pathogenic Hyperammonemia, type III, Inborn genetic diseases
RS2143989730 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2143991359 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509277230 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509277469 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509277915 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509279961 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509280209 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509280484 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509280530 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509281752 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
RS2509283402 Health Risk Likely pathogenic Hyperammonemia, type III, Hyperammonemia
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