Phospholipid-transporting ATPase IC
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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
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Further reading
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External links
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