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CYP2D6 cytochrome P450 family 2 subfamily D member 6

Gene ID: 1565, updated on 17-Jan-2022
Gene type: protein coding
Also known as: CPD6; CYP2D; CYP2DL1; CYPIID6; P450C2D; P450DB1; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; P450-DB1

Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Amitriptyline response
MedGen: CN176769GeneReviews: Not available
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Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.
GeneReviews: Not available
Clozapine response
MedGen: CN077971GeneReviews: Not available
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Codeine response
MedGen: C1837160GeneReviews: Not available
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Desipramine response
MedGen: CN233052GeneReviews: Not available
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Deutetrabenazine response
MedGen: CN258189GeneReviews: Not available
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Disorder due cytochrome p450 CYP2D6 variant
MedGen: C1837154OMIM: 608902GeneReviews: Not available
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Doxepin response
MedGen: CN077978GeneReviews: Not available
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Eliglustat response
MedGen: CN427420GeneReviews: Not available
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Fluvoxamine response
MedGen: CN221254GeneReviews: Not available
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Imipramine response
MedGen: CN221257GeneReviews: Not available
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Nortriptyline response
MedGen: C1837159GeneReviews: Not available
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Ondansetron response
MedGen: CN417142GeneReviews: Not available
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Paroxetine response
MedGen: CN221255GeneReviews: Not available
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Selective serotonin reuptake inhibitor response
MedGen: CN221268GeneReviews: Not available
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Tamoxifen response
MedGen: CN078013GeneReviews: Not available
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Thioridazine response
MedGen: CN078018GeneReviews: Not available
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Tramadol response
MedGen: CN078023GeneReviews: Not available
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Trimipramine response
MedGen: CN221259GeneReviews: Not available
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Tropisetron response
MedGen: CN417143GeneReviews: Not available
See labs

Genomic context

Location:
22q13.2
Sequence:
Chromosome: 22; NC_000022.11 (42126499..42130810, complement)
Total number of exons:
9

Links

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