Entity Details
| Primary name |
NAGS_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8N159 |
| EntryName | NAGS_HUMAN |
| FullName | N-acetylglutamate synthase, mitochondrial |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 534 |
| SequenceStatus | complete |
| DateCreated | 2005-09-13 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion matrix |
Domains
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| Domain | Name | Category | Type |
| IPR006855 | Vertebrate-like NAGS Gcn5-related N-acetyltransferase (GNAT) domain | Domain | Domain |
| IPR011243 | N-acetylglutamate synthase, animal | Family | Family |
| IPR016181 | Acyl-CoA N-acyltransferase | Family | Homologous superfamily |
| IPR036393 | Acetylglutamate kinase-like superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 237310 | OMIM | N-acetylglutamate synthase deficiency (NAGSD) | Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00142 | Glutamic acid | Drugbank | small molecule |
| DB09326 | Ammonia N-13 | Swissprot | small molecule |
Interactions
1 interaction