Article
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
Proceedings of the National Academy of Sciences of the United States of America - 6 Jan 1998
de Vree J M, Jacquemin E, Sturm E, Cresteil D, Bosma P J, Aten J, Deleuze J F, Desrochers M, Burdelski M, Bernard O, Oude Elferink R P, Hadchouel M
Abstract excerpt
Class III multidrug resistance (MDR) P-glycoproteins (P-gp), mdr2 in mice and MDR3 in man, mediate the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte. Mice with a disrupted mdr2 gene completely lack biliary phospholipid excretion and develop progressive liver disease, characterized histologically by portal inflammation, proliferation of the bile duct epithelium, and...
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