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Functional analysis of pharmacogenetic variants of human organic cation/carnitine transporter 2 (hOCTN2) identified in Singaporean populations.

Biochemical pharmacology - 1 Dec 2011

Toh Dorothy Su Lin, Murray Michael, Pern Tan Kuan, Mulay Vishwaroop, Grewal Thomas, Lee Edmund Jon Deoon, Zhou Fanfan

Abstract excerpt

The human organic cation/carnitine transporter-2 (hOCTN2; SLC22A5) mediates the cellular influx of organic cations such as carnitine, which is essential for fatty acid oxidation. Primary carnitine deficiency has been associated with a wide range of hOCTN2 gene mutations. Six novel nonsynonymous single nucleotide polymorphisms in the hOCTN2 gene were identified recently in Chinese and Indian populations of...

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PMID: 21864509
DOI: 10.1016/j.bcp.2011.08.008

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

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