CYP2D6*13 Allele

Preferred Label : CYP2D6*13 Allele;

NCIt synonyms : CYP2D6*13; Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*13 Allele; CYP2D6 13 Allele;

NCIt definition : Human CYP2D6*13 allele, located in the vicinity of 22q13.1, is a variant form of the CYP2D6 wild-type allele and encodes cytochrome P450 2D6*13 protein. The CYP2D6*13 allele, resulting from large deletions (approximately 20 kb) in the CYP2D gene cluster, is a hybrid consisting of exon 1 of the CYP2D7 gene and exons 2-9 of the CYP2D6 gene. CYP2D6*13 allele exhibits an insertion in exon 1 which causes a reading frame shift. This alteration yields a truncated cytochrome P450 2D6*13 protein that is enzymatically inactive.;

NCIt note : Ethnicity Association: Caucasian;

GenBank Accession Number : NM_000106;

PubMed : 8554938;

Details

Origin ID

C46046;

UMLS CUI

C1707209;

OMIM relation
- Cytochrome p450, subfamily iid, polypeptide 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Deletion Mutation [NCIt concept]
- Frameshift Mutation [NCIt concept]
- Protein Truncation Abnormality [NCIt concept]
allele_has_activity
- Absence of Biochemical Activity [NCIt concept]
allele_in_chromosomal_location
- 22q13.1 [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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