BSPH1
Bile Salt Export Pump Inhibitor (BSEP)
Description
Bile Salt Export Pump (BSEP) is a transmembrane protein located in the canalicular membrane of hepatocytes. Its primary function is to transport bile salts from hepatocytes into the bile canaliculi, facilitating the excretion of bile into the small intestine. BSEP plays a crucial role in maintaining bile flow and preventing the accumulation of toxic bile acids in the liver.
Associated Diseases
Mutations or defects in the BSEP gene can lead to various liver disorders, including:
- Progressive Familial Intrahepatic Cholestasis (PFIC): A group of rare inherited diseases characterized by impaired bile flow and elevated levels of bile acids in the liver. PFIC type 2 is caused by mutations in the BSEP gene.
- Biliary Atresia: A condition in infants where the bile ducts are obstructed, leading to jaundice and liver damage. BSEP deficiency is a major cause of biliary atresia.
- Intrahepatic Cholestasis of Pregnancy (ICP): A liver disorder that occurs during pregnancy and is characterized by impaired bile flow and elevated bile acid levels. BSEP deficiency has been implicated in some cases of ICP.
Did you Know ?
Approximately 1 in 50,000 newborns worldwide is affected by PFIC type 2, the most common form of PFIC caused by BSEP mutations.
