Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults

The ATP binding cassette subfamily B member 4 (ABCB4) gene on chromosome 7 encodes the ABCB4 protein (alias multi drug resistance 3 protein [MDR3]), a P-glycoprotein in the canalicular membrane of the hepatocytes that acts as a translocator of phospholipids into bile. Several variants in ABCB4 have been identified so far that lead to ABCB4 deficiency accounting for a disease spectrum ranging from progressive familial cholestasis type 3 (PFIC-3) to less severe forms presenting as low phospholipid associated cholelithiasis (LPAC), intrahepatic cholestasis of pregnancy (ICP) or drug-induced liver injury (DILI).
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Review Source Type: research