Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes. Defects in ABCB11 are the cause of progressive familial intrahepatic cholestasis type 2 (PFIC2). PFIC2 is an inherited liver disease of childhood which is characterized by cholestasis and normal serum gamma-glutamyltransferase activity. Defects in ABCB11 are also found in cases of chronic intrahepatic cholestasis without obvious familial history of chronic liver disease. Defects in ABCB11 are the cause of benign recurrent intrahepatic cholestasis type 2 (BRIC2). BRIC is characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically. Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. Note: This description may include information from UniProtKB.
Protein type: Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ABC family