Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2

FEBS Letters

Brooks, Hilary¹  Krähenbühl, Stephan¹ 

[1] Division of Clinical Pharmacology and Toxicology, University Hospital, Petersgraben 4, CH-4031 Basel, Switzerland

关键词: Systemic carnitine deficiency;    Real time quantitative PCR (TaqMan);    Splice variants;    Organic cation transporter;    Carnitine;   

DOI  :  10.1016/S0014-5793(01)03029-0

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

In this paper we show that the only known Na⁺ dependent transporter of carnitine in mammals, organic cation transporter number 2 (OCTN2), is subject to differential splicing. Cloning of OCTN2 in different rat tissues identified two splicing variants. We have developed a real time quantitative polymerase chain reaction method for quantification of these splice variants. Both splice variants could be detected in all tissues examined with a relative abundance of 0.1–1% of the full length transcript. We also draw attention to the previously described mutations in clinical examples of primary carnitine deficiency in humans where the described mutations appear to be those of a splicing or mis-splicing event.

【 授权许可】

Unknown