4‐phenylbutyrate enhances the cell surface expression and the transport capacity of wild‐type and mutated bile salt export pumps
Hisamitsu Hayashi, Yuichi Sugiyama – 30 May 2007 – Progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by a mutation in the bile salt export pump (BSEP/ABCB11) gene. We previously reported that E297G and D482G BSEP, which are frequently found mutations in European patients, result in impaired membrane trafficking, whereas both mutants retain their transport function. The dysfunctional localization is probably attributable to the retention of BSEP in endoplasmic reticulum (ER) followed by proteasomal degradation.