Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases.

@article{Jacquemin2001RoleOM,
  title={Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases.},
  author={Emmanuel Jacquemin},
  journal={Seminars in liver disease},
  year={2001},
  volume={21 4},
  pages={551-62}
}
Class III multidrug resistance P-glycoproteins, mdr2 in mice and MDR3 in humans, are canalicular phospholipid translocators involved in biliary phospholipid (phosphatidylcholine) excretion. The role of an MDR3 gene defect in liver disease was initially suspected in a subtype of progressive familial intrahepatic cholestasis called PFIC3. Several MDR3 mutations have been identified in children with PFIC3 and are associated with a low level of phospholipids in bile, leading to a high biliary… CONTINUE READING