cholestasis—progressive familial intrahepatic—2

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cholestasis—progressive familial intrahepatic—22016-11-25T08:47:37+00:00

cholestasis—progressive familial intrahepatic—2

HEPATOLOGY, METABOLISM 

Definition Cholestasis—progressive familial intrahepatic—2 is an inherited disorder (OMIM:601847) characterised by early onset of cholestasis progressing to hepatic fibrosis, cirrhosis, and end-stage liver disease by adulthood.

Molecular pathology Defects of ABCB11, which encodes an integral membrane protein that is a major canalicular bile salt export pump involved in multidrug resistance, cause cholestasis—progressive familial intrahepatic—2.  

References http://www.uniprot.org/uniprot/O95342

http://www.omim.org/entry/601847 

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