ABCB11

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ABCB11

A gene on chromosome 2q24 that encodes an ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins, MDR/TAP subfamily, which is involved in multi-drug resistance and is major canalicular bile salt export pump
Molecular pathology ABCB11 mutations cause a type of progressive
familial intrahepatic cholestasis of early (infancy) onset.
References in periodicals archive ?
Reem Bin Karam, Director of NAMA Women Advancement Establishment, highlighted the importance of field visits for BSEP participants.
ABCB11 gene polymorphism and BSEP dysfunction were also involved in a variety of cholestatic disorders, including intrahepatic cholestasis of pregnancy (ICP), which manifested in the last trimester of pregnancy, and characterized by raised serum bile acid levels (17).
UDCA stimulates hepatic BSEP, and also co-stimulates hepatic, intestinal, and renal MRP2.
Being [[sup.18]F]LCATD a substrate of the pharmacologically relevant hepatic transporter OATP1B1, as well as of transporters that are normally involved in the uptake and clearance of bile acids (such as NTCP and BSEP), if the coadministration of a drug affects the biodistribution of [[sup.18]F]LCATD, then there are high chances that the drug could cause DDIs or possibly drug induced hepatoxicity.
BSEP, encoded by ABCB11, is responsible for the ATP-dependent transport of predominantly monovalent conjugated BS across the hepatocyte canalicular membrane.
MDR1, BSEP, BCRP, and MRP2 all have polymorphisms that have been associated with idiosyncratic ADRs.
In this study, we found that GW4064, a typical FXR activator, causes significant increases in the mRNA levels of phase II conjugation enzymes and phase III transporters, including glutathione S-transferases (GSTs) (Gst[alpha]3 and Gst[alpha]4), as well as of GSH metabolism-related genes (Gclm, Gpxl), glucuronosyltransferase (Ugtlal), sulfotransferases (Sultlal) (phase II), and efflux transporters (Mrp2 and Bsep) (phase III), which is consistent with the findings reported by Lee et al.
Bile salt export pump (BSEP) is a liver-specific ATP-binding cassette transporter encoded by the ABCB11 gene, which is expressed exclusively in the liver canalicular membrane and involved with bile acid transport.
Transport by vesicles of glycine-and taurine-conjugated bile salts and taurolithocholate 3-sulfate: a comparison of human BSEP with rat Bsep.
La colestasis 1 (CIFP1), enfermedad intrahepatica familiar, cuya fisiopatologia esta aun bajo investigacion; corresponde a una enfermedad de la bomba de exportacion (BSEP) que resulta en un defecto en la excrecion canalicular de acidos biliares secundaria a una mutacion en el gen ABCB11.
Progressive familial intrahepatic cholestasis type II (PFIC II) occurs due to a number of different mutations in the BSEP gene, which encodes an ATP-binding cassette transporter involved in the salt export pump for the canalicular excretion of bile salts.