ABCC4
ABCC4: A Multifaceted Membrane Transporter with Implications for Health
Description
ABCC4, also known as Multidrug Resistance-Associated Protein 4 (MRP4), is a transmembrane protein that belongs to the ATP-binding cassette (ABC) transporter family. It is predominantly expressed in the liver and plays a crucial role in the transport of various molecules, including drugs, bile acids, and metabolites.
Associated Diseases
Mutations or alterations in ABCC4 expression have been linked to several diseases, including:
- Progressive Familial Intrahepatic Cholestasis (PFIC): A rare liver disease characterized by impaired bile flow within the liver, leading to liver damage and cirrhosis.
- Byler Disease: A severe form of PFIC with early onset and rapidly progressing liver failure.
- Gallbladder Disease: Gallstones formation and sludge accumulation in the gallbladder are associated with abnormal ABCC4 function.
- Drug Resistance: ABCC4 can confer resistance to various anticancer drugs, such as anthracyclines and vinca alkaloids.
Did you Know ?
- Approximately 1 in 50,000 individuals are affected by PFIC, with ABCC4 mutations accounting for about 20% of cases.
