title: Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.
abstract: The bile salt export pump (BSEP, ABCB11) is the primary transporter of bile acids from the hepatocyte to the biliary system. This rate-limiting step in bile formation is essential to the formation of bile salt dependent bile flow, the enterohepatic circulation of bile acids, and the digestion of dietary fats. Mutations in BSEP are associated with cholestatic diseases such as progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), drug-induced cholestasis, and intrahepatic cholestasis of pregnancy. Development of clinical therapies for these conditions necessitates a clear understanding of the cell biology of biosynthesis, trafficking, and transcriptional and translational regulation of BSEP. This chapter will focus on the molecular and cell biological aspects of this critical hepatic membrane transporter.
authors.affiliation: Yale University School of Medicine, Department of Internal Medicine, New Haven, CT 06520, United States. Electronic address: carol.soroka@yale.edu.
authors.forename: Carol J
authors.initials: CJ
authors.lastname: Soroka
authors.affiliation: Yale University School of Medicine, Department of Internal Medicine, New Haven, CT 06520, United States. Electronic address: james.boyer@yale.edu.
authors.forename: James L
authors.initials: JL
authors.lastname: Boyer
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000096:biosynthesis* / Q000235:genetics* / Q000378:metabolism; D001647:Bile Acids and Salts / Q000378:metabolism; D001659:Biliary Tract / Q000378:metabolism / Q000473:pathology; D002780:Cholestasis, Intrahepatic / Q000235:genetics* / Q000473:pathology; D005260:Female; D022781:Hepatocytes / Q000378:metabolism; D006801:Humans; D009154:Mutation; D011247:Pregnancy
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; D001647:Bile Acids and Salts
keywords: ATP-binding cassette transporter; Bile salt secretion; Cholestasis