NAGS wt Allele

Preferred Label : NAGS wt Allele;

NCIt synonyms : NAT7; AGAS; N-Acetylglutamate Synthase wt Allele; ARGA;

NCIt definition : Human NAGS wild-type allele is located in the vicinity of 17q21.31 and is approximately 4 kb in length. This allele, which encodes N-acetylglutamate synthase, mitochondrial protein, plays a role in the biosynthesis of the urea cycle cofactor N-acetylglutamate (NAG). Mutations in the gene are associated with N-acetylglutamate synthase deficiency.;

NCI Metathesaurus CUI : CL1926505;

GenBank Accession Number : AY116537;

Details

Origin ID

C203844;

UMLS CUI

C5890911;

OMIM relation
- N-acetylglutamate synthase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.31 [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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