Journal Article

Mutations in the Canalicular Multispecific Organic Anion Transporter (<i>cMOAT</i>) Gene, a Novel ABC Transporter, in Patients with Hyperbilirubinemia II/Dubin-Johnson Syndrome

Morimasa Wada, Satoshi Toh, Ken Taniguchi, Takanori Nakamura, Takeshi Uchiumi, Kimitoshi Kohno, Ichiro Yoshida, Akihiko Kimura, Shotaro Sakisaka, Yukihiko Adachi and Michihiko Kuwano

in Human Molecular Genetics

Volume 7, issue 2, pages 203-207
Published in print February 1998 | ISSN: 0964-6906
Published online February 1998 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/7.2.203
Mutations in the Canalicular Multispecific Organic Anion Transporter (cMOAT) Gene, a Novel ABC Transporter, in Patients with Hyperbilirubinemia II/Dubin-Johnson Syndrome

Show Summary Details

Preview

Members of the ATP-binding cassette (ABC) transporter superfamily are mutated to cause diseases that include cystic fibrosis, hyperinsulinemia, adrenoleukodys-trophy, Stargardt disease and multidrug resistance. We recently isolated a novel human member of ABC transporter superfamily as the candidate transporter for the glucuronide and glutathione-conjugated antitumor agents, and found it highly homologous to the rat cmoat gene. Consistent with recent findings of defects in the homologous cmoat gene in two rat models of hyperbilirubinemia (TR and Eisai), we report two deletions and a missense mutation in the active transport family signature region in the gene in patients with hyperbilirubinemia II/Dubin-Johnson syndrome (DJS; MIM 237500), respectively. These results strongly implicate the cMOAT gene as responsible for the defects in DJS patients.

Journal Article.  3580 words.  Illustrated.

Subjects: Genetics and Genomics

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.