ATP8B1

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

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 is_associated_with::cholangiocytes and the canalicular membranes of is_associated_with::hepatocytes in the liver. 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. Exactly how mutations result in these diseases is not currently understood.