Probable phospholipid-transporting ATPase IC is an enzyme that in humans is encoded by the ATP8B1 gene.[5][6][7] This protein is associated with progressive familial intrahepatic cholestasis type 1 as well as benign recurrent intrahepatic cholestasis.[8]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000081923 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039529 – Ensembl, May 2017
- ^ "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. PMID 9500542. S2CID 9897047.
- ^ 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. PMID 7655458.
- ^ "Entrez Gene: ATP8B1 ATPase, Class I, type 8B, member 1".
- ^ Klomp L.W., Vargas J.C., van Mil S.W., Pawlikowska L, Strautnieks SS, Van Eijk MJ, et al. (July 2004). "Characterization of mutations in ATP8B1 associated with hereditary cholestasis" (PDF). Hepatology. 40 (1): 27–38. doi:10.1002/hep.20285. PMID 15239083. S2CID 45979358.