Article
A natural variant of the heme-binding signature (R441C) resulting in complete loss of function of CYP2D6.
Drug metabolism and disposition: the biological fate of chemicals - 1 Aug 2007
Klein Kathrin, Tatzel Stephan, Raimundo Sebastian, Saussele Tanja, Hustert Elisabeth, Pleiss Jürgen, Eichelbaum Michel, Zanger Ulrich M
Abstract excerpt
A new variant allele CYP2D6*62 (g.4044C>T; R441C) of the drug-metabolizing cytochrome P450 (P450) CYP2D6 was identified in a person with reduced sparteine oxidation phenotype, which was unexpected based on a genetic CYP2D6*1A/*41 background. The recombinantly expressed variant protein had no activity toward propafenone as a result of missing heme incorporation. Sequence alignment revealed that the positively...
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