Article
Aberrant splicing caused by single nucleotide polymorphism c.516G>T [Q172H], a marker of CYP2B6*6, is responsible for decreased expression and activity of CYP2B6 in liver.
The Journal of pharmacology and experimental therapeutics - 1 Apr 2008
Hofmann Marco H, Blievernicht Julia K, Klein Kathrin, Saussele Tanja, Schaeffeler Elke, Schwab Matthias, Zanger Ulrich M
Abstract excerpt
CYP2B6 is a polymorphic human drug metabolizing cytochrome P450 with clinical relevance for several drug substrates including cyclophosphamide, bupropion, and efavirenz. The common allele CYP2B6*6 [c. 516G>T, Q172H, and c.785A>G, K262R] has previously been associated with lower expression in human liver and with increased plasma levels of efavirenz in human immunodeficiency virus patients, but the molecular...
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