LP19693-8
CYP2D6 gene
Active
Description
The CYP2D6 gene (cytochrome P450, family 2, subfamily D, polypeptide 6) [HGNC Gene ID:2625] is located on chromosome 22q13.1. 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] [NCBI Gene ID:1565] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- CYP2D6 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- CYP2D6
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CYP2D6 基因 Synonyms: CPD6; |
| et-EE | Estonian (Estonia) | CYP2D6 geen |
| es-ES | Spanish (Spain) | Gen CYP2D6 |
| it-IT | Italian (Italy) | CYP2D6, gene Synonyms: Gene CYP2D6 |
| tr-TR | Turkish (Turkey) | CYP2D6 geni |
| ru-RU | Russian (Russian Federation) | CYP2D6 ген |
| nl-NL | Dutch (Netherlands) | CYP2D6-gen Synonyms: CYP2D6 gen |
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