GeneID: 103


Common Name: CYP2D6 Type: Gene
Chromosome: 22 (NC_000022.11) Locus: NG_008376.3 (CYP2D6)
HUGO Symbol: CYP2D6 Full Name: cytochrome P450 family 2 subfamily D member 6
Exons: 9 Introns: 8

CYP2D6 is a member of the cytochrome P450 (CYP450) superfamily of heme-thiolate proteins that catalyse monooxygenase reactions and partake in the metabolism of a wide range of endogenous and xenobiotic compounds, such as lipids, steroids and drugs. It localizes to the endoplasmic reticulum, and is predominantly expressed in hepatic and brain tissues. CYP2D6 substrates are lipophilic bases and include some antiarrhythmics, antihypertensives, antipsychotics, antidepressants, analgesics and β-adrenoceptor antagonists (β-blockers). The CYP2D6 protein is responsible for the metabolism of about 25% of commonly prescribed drugs. The gene is highly polymorphic in the population, resulting in an extensive inter-individual variability with poor, intermediate, efficient or ultrarapid metabolisers of therapeutic drugs. Polymorphisms in this gene appear to influence the production of active opioid and thus contribute to variability in the response to pain treatment in individuals with sickle cell disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Synonyms: CYP2D7AP , CYP2D7BP , CYP2D7P2 , CYP2D8P2 , CYP2DL1 , CPD6 , CYP2D , P450-DB1 , P450C2D


Sequence Viewer

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Publications / Origin

  1. Ingelman-Sundberg M, Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity., Pharmacogenomics J. , 5(1), 6-13, 2005 PubMed
  2. Brousseau DC, McCarver DG, Drendel AL, Divakaran K, Panepinto JA, The effect of CYP2D6 polymorphisms on the response to pain treatment for pediatric sickle cell pain crisis., J. Pediatr. , 150(6), 623-6, 2007 PubMed
  3. Zhou SF, Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I., Clin Pharmacokinet , 48(11), 689-723, 2009 PubMed
  4. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010 PubMed
Created on 2016-04-27 11:30:02, Last reviewed on 2016-05-24 12:34:13 (Show full history)

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