Article
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Journal of hepatology - 1 Sept 2020
Stättermayer Albert Friedrich, Halilbasic Emina, Wrba Fritz, Ferenci Peter, Trauner Michael
Abstract excerpt
The ATP binding cassette subfamily B member 4 (ABCB4) gene on chromosome 7 encodes the ABCB4 protein (alias multidrug resistance protein 3 [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 shown to cause ABCB4 deficiency, accounting for a disease spectrum ranging from progressive familial cholestasis...
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