A naturally occurring mutation in the SLC21A6 gene causing impaired membrane localization of the hepatocyte uptake transporter.

@article{Michalski2002ANO,
  title={A naturally occurring mutation in the SLC21A6 gene causing impaired membrane localization of the hepatocyte uptake transporter.},
  author={Christoph W. Michalski and Yunhai Cui and Anne T Nies and Andreas K. N{\"u}ssler and Peter Neuhaus and Ulrich M. Zanger and Kathrin E Klein and Michel F Eichelbaum and Dietrich Keppler and Jorg Konig},
  journal={The Journal of biological chemistry},
  year={2002},
  volume={277 45},
  pages={43058-63}
}
The organic anion transporter SLC21A6 (also known as OATP2, OATP-C, or LST-1) is involved in the hepatocellular uptake of a variety of endogenous and xenobiotic substances and drugs. We analyzed 81 human liver samples by immunoblotting and found one with a strongly reduced amount of SLC21A6 protein suggesting mutations in the SLC21A6 gene. The SLC21A6 cDNA from this sample contained five base pair changes in one allele; three of the mutations resulted in amino acid substitutions designated… CONTINUE READING