The genetic polymorphism of drug transporters: functional analysis approaches

Pharmacogenomics. 2004 Jan;5(1):67-99. doi: 10.1517/phgs.


Evidence is accumulating to strongly suggest that drug transporters are one of the determining factors governing the pharmacokinetic profile of drugs. To date, a variety of drug transporters have been cloned and classified as solute carriers and ATP-binding cassette transporters. Such drug transporters are expressed in various tissues such as the intestine, brain, liver, and kidney, and play critical roles in the absorption, distribution and excretion of drugs. However, at the present time, information is limited regarding the genetic polymorphism of drug transporters and its impact on their function. In this context, we have undertaken the functional analyses of the polymorphisms identified in drug transporter genes. This article aims to provide an overview on the functional aspects of the non-synonymous polymorphisms of drug transporters and to present standard methods for the evaluation of the effect of polymorphisms on their function.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Biological Transport / genetics
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Humans
  • Pharmaceutical Preparations* / metabolism
  • Pharmacokinetics
  • Polymorphism, Single Nucleotide*
  • Substrate Specificity


  • Carrier Proteins
  • Pharmaceutical Preparations