ATP8B1/PFIC1 Polyclonal

Found in most tissues except brain and skeletal muscle. Most abundant in pancreas and small intestine. May play a role in the transport of aminophospholipids from the outer to the inner leaflet of various membranes and the maintenance of asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both. Defects in ATP8B1 are the cause of progressive familial intrahepatic cholestasis type 1 (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. Defects in ATP8B1 are the cause of benign recurrent intrahepatic cholestasis type 1 (BRIC1); also known as Summerskill syndrome. BRIC is characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.