Article
Functional analysis of a mutation in the SLCO1B1 gene (c.1628T>G) identified in a Japanese patient with pravastatin-induced myopathy.
The pharmacogenomics journal - 1 Jun 2009
Furihata Tomomi, Satoh Naoki, Ohishi Tomoharu, Ugajin Miyuki, Kameyama Yoshio, Morimoto Kaori, Matsumoto Sayaka, Yamashita Keiko, Kobayashi Kaoru, Chiba Kan
Abstract excerpt
In the present study, we analyzed the function of a novel mutation (c.1628T>G, p.Leu543Trp) in the solute carrier organic anion transporter (SLCO) 1B1 gene, encoding organic anion transporting polypeptide (OATP) 1B1, which was identified in a patient with pravastatin-induced myopathy. OATP1B1 variants carrying the mutation (OATP1B1*1a+c.1628T>G or *1b+c.1628T>G) showed a reduced transporting activity toward...
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