CYP2D6*5 Allele

Preferred Label : CYP2D6*5 Allele;

NCIt synonyms : CYP2D6, del; CYP2D6D; CYP2D6 Deleted; Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*5 Allele; CYP2D6*5; CYP2D6 5 Allele;

NCIt definition : Human CYP2D6*5 allele is a variant form of the CYP2D6 wild-type allele. The CYP2D6*5 allele is a result of deletion of the entire CYP2D6 gene. Thus, the CYP2D6*5 allele does not encode a cytochrome P450 2D6 protein. This is the basis of the poor metabolizer phenotype in individuals who carry this allele.;

NCIt note : Ethnicity Association: Asian; African American; Black African; Caucasian; Middle Eastern;

GenBank Accession Number : NM_000106;

PubMed : 1673290; 8634695;

Details

Origin ID

C45621;

UMLS CUI

C1707227;

OMIM relation
- Cytochrome p450, subfamily iid, polypeptide 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_absent_from_wild-type_chromosomal_location
- 22q13.1 [NCIt concept]
allele_has_abnormality
- Deletion Mutation [NCIt concept]
allele_has_activity
- Absence of Biochemical Activity [NCIt concept]
allele_plays_altered_role_in_process
- Drug Metabolism [NCIt concept]
- Xenobiotic Metabolism [NCIt concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Xenobiotic Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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