NAT2 wt Allele

Preferred Label : NAT2 wt Allele;

NCIt synonyms : NAT2*4 Allele; NAT-2; AAC2; N-Acetyltransferase 2 (Arylamine N-Acetyltransferase) wt Allele;

NCIt definition : Human NAT2 wild-type allele is located in the vicinity of 8p22 and is approximately 10 kb in length. This allele, which encodes arylamine N-acetyltransferase 2 protein, is involved in the activation/deactivation of arylamine and hydrazine compounds. Certain allelic variants of the NAT2 gene are associated with systemic lupus erythematosus and certain types of cancer such as bladder cancer and colorectal cancer.;

NCIt note : Allelic variants of the NAT2 gene encode protein products exhibiting a wide range of enzymatic activity. Based on this N-acetylation polymorphism, human populations segregate into slow, intermediate and rapid acetylator phenotypes.;

GenBank Accession Number : NM_000015;

Details

Origin ID

C51048;

UMLS CUI

C1705514;

OMIM relation
- N-acetyltransferase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Systemic Lupus Erythematosus [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8p22 [NCIt concept]
gene_is_element_in_pathway
- Caffeine Metabolism Pathway [NCIt concept]
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
gene_plays_role_in_process
- Acetylation [NCIt concept]
- Detoxification [NCIt concept]

Keyword's position in hierarchy(ies) :

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