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Center for Nephrology and Metabolic Disorders
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Cytochrome P450 2D6

The CYP2D6 gene encodes a member of the cytochrome P450 superfamily. It metabolizes many pharmaceuticals, including codeine and debrisoquine.

Interpretation

Metabolized by CYP2D6 are among others the following substances:

Antiarrhythmics Flecainid, Lidocain, Propafenon

Antidepressants Amitriptylin, Citalopram, Clomipramin, DesipraminEscitalopram, Fluoxetil, Imipramin, Nortriptylin, Paroxetin, Venlafaxin, Vortioxetin

Antihistamines Pitolisant

Antiestrogens Tamoxifen

Antipsychotics Brexppiprazol, Iloperidon, Pimozid, Risperidon, Thioridazin

Cold medicine Dextromethorphan

Beta-blocker Carvedilol, Metoprolol, Propanolol

Opiates Codein, Oxycodon, Tramadol

Other Valbenazin, Eliglustat, Deutetrabenazin, Trabenazin, Atomoxetin

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Alzheimer disease
APOE
APP
CLU
CYP2D6
HFE
Disturbances of cytochrome p450 system
CYP1A2
CYP2A6
CYP2C9
CYP2D6
CYP3A4
CYP4F2
Siponimod intolerance
CYP2C9

References:

1.

Nakamura K et al. (2002) CYP2D6.10 present in human liver microsomes shows low catalytic activity and thermal stability.

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2.

Yue QY et al. (1997) Quantification of the O- and N-demethylated and the glucuronidated metabolites of codeine relative to the debrisoquine metabolic ratio in urine in ultrarapid, rapid, and poor debrisoquine hydroxylators.

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3.

Marez D et al. (1997) Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution.

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4.

Steen VM et al. (1995) Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of human cytochrome P450 CYP2D6 gene.

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5.

Broly F et al. (1995) A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency.

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6.

Saxena R et al. (1994) Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype.

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7.

Panserat S et al. (1994) DNA haplotype-dependent differences in the amino acid sequence of debrisoquine 4-hydroxylase (CYP2D6): evidence for two major allozymes in extensive metabolisers.

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8.

Johansson I et al. (1993) Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine.

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9.

Chen X et al. (1995) The CYP2D6B allele is associated with a milder synaptic pathology in Alzheimer's disease.

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10.

Kagimoto M et al. (1990) Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes.

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11.

Hanioka N et al. (1990) The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3' splice recognition site.

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12.

Gough AC et al. (1990) Identification of the primary gene defect at the cytochrome P450 CYP2D locus.

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13.

Desmeules J et al. (1991) Impact of environmental and genetic factors on codeine analgesia.

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14.

Koren G et al. (2006) Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother.

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15.

Gaedigk A et al. (1991) Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism.

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16.

Gasche Y et al. (2004) Codeine intoxication associated with ultrarapid CYP2D6 metabolism.

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17.

Nelson DR et al. (2004) Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.

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18.

Idle JR et al. (2000) Medical implications of HGP's sequence of chromosome 22.

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19.

NCBI article

NCBI 1565 external link
20.

OMIM.ORG article

Omim 124030 external link
21.

Orphanet article

Orphanet ID 241953 external link
22.

Wikipedia article

Wikipedia EN (CYP2D6) external link
Update: Aug. 14, 2020
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