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Article

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

Pharmacogenetics - 1 Nov 2002

Kerb Reinhold, Brinkmann Ulrich, Chatskaia Natalia, Gorbunov Dmitry, Gorboulev Valentin, Mornhinweg Esther, Keil Andrea, Eichelbaum Michel, Koepsell Hermann

Abstract excerpt

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...

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Identifiers

PMID: 12439218
DOI: 10.1097/00008571-200211000-00002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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