| Modification Notes |
FIC1 is a 1,251 amino acid protein encoded by the human gene ATP8B1 and belongs to the cation transport ATPase (P-type) family, type IV subfamily. FIC1 is a multi-pass membrane protein believed to play a role in the transport of aminophospholipids from the outer to the inner leaflet of various membranes and in the maintenance of asymmetric distribution of phospholipids in the canicular membrane. It may also have a role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa, or both. FIC1 is found in most tissues except brain and skeletal muscle and is most abundant in pancreas and small intestine. Defects in the ATP8B1 gene are the cause of intrahepatic cholestasis (PFIC1), also known as Byler disease. PFIC1 is an autosomal recessive disorder, characterized by early infancy cholestasis, that may be initially episodic but progresses to malnutrition, growth retardation and end-stage liver disease before adulthood. |