NAT2*6 Allele - CISMeF

Preferred Label : NAT2*6 Allele;

NCIt synonyms : N-Acetyltransferase 2 (Arylamine N-Acetyltransferase)*6 Allele; NAT2 2 Allele;

NCIt definition : Human NAT2*6 allele is a designation for a group of variant alleles of the NAT2 gene, which is located in the vicinity of 8p22 and is approximately 10 kb in length. The wild-type allele, which encodes arylamine N-acetyltransferase 2 protein, is involved in the activation/deactivation of arylamine and hydrazine compounds. This group of allelic variants of the NAT2 gene all exhibit a SNP (c. 590G A) that results in a R197Q coding change and may be associated with decreased enzymatic activity of the encoded protein.;

Details

Origin ID

C67344;

UMLS CUI

C1881941;

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_plays_role_in_process
- Acetylation [NCIt concept]
- Detoxification [NCIt concept]

Keyword's position in hierarchy(ies) :

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