Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11
Hisamitsu Hayashi, Tappei Takada, Hiroshi Suzuki, Hidetaka Akita, Yuichi Sugiyama – 24 March 2005 – Progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by a mutation in the bile salt export pump (BSEP/ABCB11) gene. However, the mechanisms for the deficiency in the function of two mutations (E297G and D482G), which are frequently found in European patients, have not yet been identified. In the present study, we examined the transport activity and cellular localization of these two mutants in human embryonic kidney 293 and Madin‐Darby canine kidney II cells, respectively.