A third human carnitine/organic cation transporter (OCTN3) as a canditate for the 5q31 Crohn's disease disease locus (IBD5)

被引：53
作者：
Lamhonwah, AM
Skaug, J
Scherer, SW
Tein, I
机构：
[1] Univ Toronto, Hosp Sick Children, Div Neurol, Dept Pediat, Toronto, ON M5G 1X8, Canada
[2] Univ Toronto, Hosp Sick Children, Div Neurol, Dept Pediat, Toronto, ON M5G 1X8, Canada
[3] Univ Toronto, Hosp Sick Children, Div Neurol, Dept Lab Med & Pathobiol, Toronto, ON M5G 1X8, Canada
[4] Hosp Sick Children, Ctr Appl Genomics, Dept Genet & Genomic Biol, Toronto, ON M5G 1X8, Canada
来源：
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2003年 / 301卷 / 01期
关键词：
organic cation transporter; carnitine transporter; OCTN3; gene; Crohn's disease; peroxisomes;
D O I：
10.1016/S0006-291X(02)02946-7
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Organic cation transporters function primarily in the elimination of cationic drugs in kidney, intestine, and liver [1-3]. The murine organic cation/carnitine (Octn) transporter family, Octn1, Octn2, and Octn3 is clustered on mouse chromosome I I (NCBI Accession No. NW_000039). The human OCTN1 and OCTN2 orthologs map to the syntenic IBD5 locus at 5q31 [1], which has been shown to confer susceptibility to Crohn's disease [4]. We show that the human OCTN3 protein, whose corresponding gene is not yet cloned or annotated in the human reference DNA sequence, does indeed exist and is uniquely involved in carnitine-dependent transport in peroxisomes. Its functional properties and inferred chromosomal location implicate it for involvement in Crohn's disease. (C) 2002 Elsevier Science (USA). All rights reserved.
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页码：98 / 101
页数：4
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