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]
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.[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.
References
Further reading
External links
- ATP8B1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human ATP8B1 genome location and ATP8B1 gene details page in the UCSC Genome Browser.
