title: Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2.
abstract: 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.
authors.affiliation: Division of Clinical Pharmacology and Toxicology, University Hospital, Petersgraben 4, CH-4031 Basel, Switzerland.
authors.forename: H
authors.initials: H
authors.lastname: Brooks
authors.forename: S
authors.initials: S
authors.lastname: Krähenbühl
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001665:Binding Sites; D002352:Carrier Proteins / Q000032:analysis* / Q000737:chemistry / Q000235:genetics*; D003001:Cloning, Molecular; D020869:Gene Expression Profiling; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000032:analysis* / Q000737:chemistry / Q000235:genetics*; D027701:Organic Cation Transport Proteins; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D051381:Rats; D017207:Rats, Sprague-Dawley; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D000074058:Solute Carrier Family 22 Member 5
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D027701:Organic Cation Transport Proteins; D012333:RNA, Messenger; C492020:SLC22A5 protein, human; C115441:Slc22a5 protein, rat; D000074058:Solute Carrier Family 22 Member 5