Das CYP2D6-Gen kodiert ein Cytochrom P450 Enzym, welches insbesondere für die Metabolisierung von Arzneimitteln eine Rolle spielt. Verschiedene Interaktionen von Medikamenten beruhen auf einer Beeinflussung dieses gemeinsamen Stoffwechselweges.
Metabolisiert werden unter anderem durch das Enzym CYP2D6 folgende Substanzen:
Antiarrhythmika Flecainid, Lidocain, Propafenon
Antidepressiva Amitriptylin, Citalopram, Clomipramin, DesipraminEscitalopram, Fluoxetil, Imipramin, Nortriptylin, Paroxetin, Venlafaxin, Vortioxetin
Antihistaminika Pitolisant
Antiöstrogene Tamoxifen
Antipsychotika Brexppiprazol, Iloperidon, Pimozid, Risperidon, Thioridazin
Antitussiva Dextromethorphan
Betablocker Carvedilol, Metoprolol, Propanolol
Opiate Codein, Oxycodon, Tramadol
Sonstige Valbenazin, Eliglustat, Deutetrabenazin, Trabenazin, Atomoxetin
Forschung | Untersuchungsmethoden | Familienuntersuchung |
Bearbeitungszeit | 5 Tage | |
Probentyp | genomische DNS |
Klinisch | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
Klinisch | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
Klinisch | Untersuchungsmethoden | Multiplex ligationsabhängige Amplifikation |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
Störungen im Cytochrom P450-System | ||||
CYP1A2 | ||||
CYP2A6 | ||||
CYP2C9 | ||||
CYP2D6 | ||||
CYP3A4 | ||||
CYP4F2 | ||||
Siponimod-Intoleranz | ||||
CYP2C9 | ||||
1. |
Nakamura K et al. (2002) CYP2D6.10 present in human liver microsomes shows low catalytic activity and thermal stability. |
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. |
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. |
5. |
Broly F et al. (1995) A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency. |
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. |
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. |
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. |
9. |
Chen X et al. (1995) The CYP2D6B allele is associated with a milder synaptic pathology in Alzheimer's disease. |
12. |
Gough AC et al. (1990) Identification of the primary gene defect at the cytochrome P450 CYP2D locus. |
13. |
Desmeules J et al. (1991) Impact of environmental and genetic factors on codeine analgesia. |
14. |
Koren G et al. (2006) Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. |
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. |
16. |
Gasche Y et al. (2004) Codeine intoxication associated with ultrarapid CYP2D6 metabolism. |
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. |
18. |
Idle JR et al. (2000) Medical implications of HGP's sequence of chromosome 22. |
19. |
NCBI article NCBI 1565 |
20. |
OMIM.ORG article Omim 124030 |
21. |
Orphanet article Orphanet ID 241953 |
22. |
Wikipedia Artikel Wikipedia DE (Cytochrom_P450_2D6) |