Familial intrahepatic cholestasis 1: Studies of localization and function
Peter Ujhazy, Daniel Ortiz, Suniti Misra, Shohua Li, James Moseley, Hugh Jones, Irwin M. Arias – 30 December 2003 – Mutations in the FIC1 gene constitute the molecular defect in familial intrahepatic cholestasis I (Fic1 [Byler's disease]) and benign recurrent intrahepatic cholestasis. This report describes the localization of Fic1 in rat liver and intestine, as well as biochemical and transfection studies that support its function as an energy‐dependent aminophospholipid translocase.