Gene:
ATPase, Class I, type 8B, member 1
Gene ID:
208690
Symbol:
ATP8B1
Species:
1000
Description:
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. 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 (PFIC1) and in benign recurrent intrahepatic cholestasis (BRIC).