The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.

Abstract excerpt

Class III multidrug resistance P-glycoproteins, Mdr2 in mice and MDR3 in human, are canalicular phospholipid translocators involved in biliary phospholipid (phosphatidylcholine) excretion. The role of an ABCB4 gene defect in liver disease has been initially proven in a subtype of progressive familial intrahepatic cholestasis called PFIC3, a severe pediatric liver disease that may require liver transplantation....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to ATP Binding Cassette Transporter, Subfamily B
• Share to Cholestasis, Intrahepatic