The ATP8B1 gene (also known as FIC1) provides instructions for making a protein that is found throughout the body. It is thought to control the distribution of certain fat molecules known as aminophospholipids on the inner surface of liver cell membranes. Based on this role, the ATP8B1 protein is sometimes known as an aminophospholipid translocase. In particular, this protein performs its function in the membranes of liver cells that transport fat-digesting acids called bile acids into bile, and it likely plays a role in maintaining an appropriate balance of bile acids. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells.
Other Names
AT8B1_HUMAN; ATPase, aminophospholipid transporter, class I, type 8B, member 1; BRIC; FIC1; PFIC; PFIC1
Related Genetics Topics
- Progressive familial intrahepatic cholestasis — MedlinePlus Genetics
- Benign recurrent intrahepatic cholestasis — MedlinePlus Genetics
Identifiers
- NCBI Gene: 5205
- OMIM: 602397
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
