Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Cytochrom P450 2D6

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.

Interpretation

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

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Alzheimer Erkrankung
APOE
APP
CLU
CYP2D6
HFE
Störungen im Cytochrom P450-System
CYP1A2
CYP2A6
CYP2C9
CYP2D6
CYP3A4
CYP4F2
Siponimod-Intoleranz
CYP2C9

Referenzen:

1.

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

external link
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.

external link
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.

external link
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.

external link
5.

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

external link
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.

external link
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.

external link
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.

external link
9.

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

external link
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.

external link
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.

external link
12.

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

external link
13.

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

external link
14.

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

external link
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.

external link
16.

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

external link
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.

external link
18.

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

external link
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 Artikel

Wikipedia DE (Cytochrom_P450_2D6) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz