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 liv...
Topics
- ATP Binding Cassette Transporter, Subfamily B
- ATP Binding Cassette Transporter, Subfamily B, Member 1
- ATP-Binding Cassette Transporters
- Animals
- Child
- Cholestasis, Intrahepatic
- Drug Resistance, Multiple
- Female
- Humans
- Liver
- Male
- Mice
- Mutation