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

First Author  Lamhonwah AM Year  2003
Journal  Biochem Biophys Res Commun Volume  301
Issue  1 Pages  98-101
PubMed ID  12535646 Mgi Jnum  J:81891
Mgi Id  MGI:2450198 Doi  10.1016/s0006-291x(02)02946-7
Citation  Lamhonwah AM, et al. (2003) A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5). Biochem Biophys Res Commun 301(1):98-101
abstractText  Organic cation transporters function primarily in the elimination of cationic drugs in kidney, intestine, and liver. The murine organic cation/carnitine (Octn) transporter family, Octn1, Octn2, and Octn3 is clustered on mouse chromosome 11 (NCBI Accession No. NW_000039). The human OCTN1 and OCTN2 orthologs map to the syntenic IBD5 locus at 5q31, which has been shown to confer susceptibility to Crohn's disease. 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.
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