This gene encodes a member of the P-type cation transport ATPase family and specifically belongs to the subfamily of aminophospholipid-transporting ATPases. This protein is highly expressed in the small intestine, stomach, pancreas, and prostate and is also found in cholangiocytes and the canalicular membranes of hepatocytes in the liver.[9][10] The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis.[7] Exactly how mutations result in these diseases is not currently understood.
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, et al. (Mar 1998). "A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis". Nat Genet. 18 (3): 219–24. doi:10.1038/ng0398-219. PMID9500542. S2CID9897047.
^Carlton VE, Knisely AS, Freimer NB (Oct 1995). "Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region". Hum Mol Genet. 4 (6): 1049–53. doi:10.1093/hmg/4.6.1049. PMID7655458.
^Eppens EF, van Mil SW, de Vree JM, Mok KS, Juijn JA, Oude Elferink RP, et al. (October 2001). "FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte". J. Hepatol. 35 (4): 436–43. doi:10.1016/S0168-8278(01)00158-1. PMID11682026.
Knisely AS (2000). "Progressive familial intrahepatic cholestasis: a personal perspective". Pediatr. Dev. Pathol. 3 (2): 113–25. doi:10.1007/s100240050016 (inactive 2024-04-12). PMID10679031.{{cite journal}}: CS1 maint: DOI inactive as of April 2024 (link)
Harris MJ, Le Couteur DG, Arias IM (2006). "Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters". J. Gastroenterol. Hepatol. 20 (6): 807–17. doi:10.1111/j.1440-1746.2005.03743.x. PMID15946126. S2CID21480442.
Clayton RJ, Iber FL, Ruebner BH, McKusick VA (1969). "Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred". Am. J. Dis. Child. 117 (1): 112–24. doi:10.1001/archpedi.1969.02100030114014. PMID5762004.
Harris MJ, Arias IM (2003). "FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body". Biochim. Biophys. Acta. 1633 (2): 127–31. doi:10.1016/S1388-1981(03)00107-0. PMID12880872.