ATP8B1

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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Probable phospholipid-transporting ATPase IC is an enzyme that in humans is encoded by the ATP8B1 gene.[1][2][3] This protein is associated with progressive familial intrahepatic cholestasis type 1 as well as benign recurrent intrahepatic cholestasis.[4]

Function

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.[5][6] 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.[3] Exactly how mutations result in these diseases is not currently understood.

References

  1. Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB (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.
  2. 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.
  3. 3.0 3.1 "Entrez Gene: ATP8B1 ATPase, Class I, type 8B, member 1".
  4. Klomp LW, Vargas JC, van Mil SW, et al. (July 2004). "Characterization of mutations in ATP8B1 associated with hereditary cholestasis". Hepatology. 40 (1): 27–38. doi:10.1002/hep.20285. PMID 15239083.
  5. Jansen PL, Müller M (July 2000). "The molecular genetics of familial intrahepatic cholestasis". Gut. 47 (1): 1–5. doi:10.1136/gut.47.1.1. PMC 1727973. PMID 10861251.
  6. Eppens EF, van Mil SW, de Vree JM, 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. PMID 11682026.

Further reading

External links



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