The C3435T mutation in the human MDR1 gene is associated with altered efflux of the P-glycoprotein substrate rhodamine 123 from CD56+ natural killer cells.

@article{Hitzl2001TheCM,
  title={The C3435T mutation in the human MDR1 gene is associated with altered efflux of the P-glycoprotein substrate rhodamine 123 from CD56+ natural killer cells.},
  author={Monika Hitzl and Siegfried Drescher and Heiko van der Kuip and Elke Schaeffeler and Joachim Fischer and Matthias Schwab and Michel F Eichelbaum and Martin F. Fromm},
  journal={Pharmacogenetics},
  year={2001},
  volume={11 4},
  pages={293-8}
}
P-glycoprotein (PGP) is a membrane protein which determines drug disposition in humans (e.g. digoxin). It is also expressed in various leukocyte lineages with highest expression in CD56+ natural killer cells. Recently, a polymorphism in exon 26 (C3435T) of this gene was shown to correlate with intestinal PGP expression and function in humans. Carriers homozygous for this polymorphism (TT) showed more than two-fold lower PGP expression and higher digoxin plasma concentrations compared to the CC… CONTINUE READING