Identification of genetic variations of the human organic cation transporter hOCT1 and their functional consequences.

@article{Kerb2002IdentificationOG,
  title={Identification of genetic variations of the human organic cation transporter hOCT1 and their functional consequences.},
  author={Reinhold Kerb and Ulrich Brinkmann and Natalia Chatskaia and Dmitry Gorbunov and Valentin Gorboulev and Esther Mornhinweg and Andrea Keil and Michel F Eichelbaum and Hermann Koepsell},
  journal={Pharmacogenetics},
  year={2002},
  volume={12 8},
  pages={591-5}
}
By systematic mutation screening of the polyspecific organic cation transporter hOCT1 (SLC22A1) in 57 Caucasians, 25 genetic variations were identified and further analysed for population frequency. Five mutations resulting in the amino acid changes Arg61Cys, Cys88Arg, Phe160Leu, Gly401Ser, and Met420del, with respective allele frequencies of 9.1, 0.6, 22, 3.2, and 16%, were functionally characterized upon expression in Xenopus oocytes. Phe160Leu and Met420del exhibited substrate affinities and… CONTINUE READING
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