Bile Salt Export Pump (ABCB11) ELISA Kit for Mouse

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]

ABCB11: 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.

Protein type: Membrane protein, integral; Transporter; Membrane protein, multi-pass; Transporter, ABC family; Hydrolase

Chromosomal Location of Human Ortholog: 2q24

Cellular Component: apical part of cell; integral to plasma membrane; intercellular canaliculus; membrane; plasma membrane

Molecular Function: ATP binding; bile acid-exporting ATPase activity; canalicular bile acid transmembrane transporter activity; sodium-exporting ATPase activity, phosphorylative mechanism; transporter activity

Biological Process: bile acid and bile salt transport; bile acid biosynthetic process; bile acid metabolic process; canalicular bile acid transport; transport

Disease: Cholestasis, Benign Recurrent Intrahepatic, 2; Cholestasis, Progressive Familial Intrahepatic, 2