ABCC5
Description of ABCB5
ABCB5 (ATP-binding cassette, sub-family B, member 5) is a protein that is encoded by the ABCB5 gene in humans. It is a member of the ATP-binding cassette (ABC) transporter superfamily, which is responsible for transporting various molecules across cell membranes. ABCB5 specifically transports cholesterol, phospholipids, and bile acids from the liver to the bile canaliculi, facilitating the elimination of these compounds from the body.
Associated Diseases
Mutations or dysregulation of the ABCB5 protein have been linked to several diseases, including:
- Progressive Familial Intrahepatic Cholestasis (PFIC): A rare genetic liver disease characterized by the accumulation of bile in the liver, leading to fibrosis and cirrhosis.
- Biliary Atresia: A severe liver disease in infants that causes blockage of the bile ducts, resulting in jaundice and liver failure.
- Cholestasis: A condition in which bile flow is impaired, leading to the buildup of bile acids and other toxic substances in the liver and bloodstream.
- Hyperlipidemia: High levels of cholesterol in the blood.
- Gallstone Disease: Formation of stones in the gallbladder or bile ducts.
Did you Know ?
Approximately 50% of PFIC cases are caused by mutations in the ABCB5 gene.
