title: Genetic variations of bile salt transporters.
abstract: Bile salt transporters directly or indirectly influence biological processes through physicochemical or signalling properties of bile salts. The coordinated action of uptake and efflux transporters in polarized epithelial cells of the liver, biliary tree, small intestine and kidney determine bile salt concentrations in different compartments of the body. Genetic variations of bile salt transporters lead to clinical relevant phenotypes of varying severity ranging from a predisposition for drug-induced liver injury to rapidly progressing end-stage liver disease. This review focuses on the impact of genetic variations of bile salt transporters including BSEP, NTCP, ASBT and OSTα/β and discusses approaches for transporter analysis.
authors.forename: Ralf
authors.initials: R
authors.lastname: Kubitz
authors.forename: Carola
authors.initials: C
authors.lastname: Dröge
authors.forename: Stefanie
authors.initials: S
authors.lastname: Kluge
authors.forename: Jan
authors.initials: J
authors.lastname: Stindt
authors.forename: Dieter
authors.initials: D
authors.lastname: Häussinger
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001647:Bile Acids and Salts / Q000378:metabolism*; D056486:Chemical and Drug Induced Liver Injury / Q000235:genetics / Q000378:metabolism; D014644:Genetic Variation; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D029363:Organic Anion Transporters, Sodium-Dependent / Q000235:genetics*; D019154:Protein Splicing / Q000235:genetics; D027981:Symporters / Q000235:genetics*
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; D026901:Membrane Transport Proteins; D029363:Organic Anion Transporters, Sodium-Dependent; D027981:Symporters; C476575:organic solute transporter alpha, human; C071908:sodium-bile acid cotransporter