ABCB5
ABCB5: The Multifaceted Gene and Its Role in Health and Disease
Description
ABCB5, also known as the ATP-binding cassette sub-family B member 5 gene, encodes a protein that plays a crucial role in cellular detoxification and the transportation of various molecules across cellular membranes. It is located on chromosome 7q21.3 and belongs to the ATP-binding cassette (ABC) transporter superfamily, a group of proteins responsible for the active transport of molecules against a concentration gradient.
ABCB5 is a transmembrane protein that consists of two transmembrane domains, two nucleotide-binding domains (NBDs), and a flexible linker region. The transmembrane domains span the cellular membrane, forming a channel through which molecules can be transported, while the NBDs bind and hydrolyze ATP to provide energy for transport.
Associated Diseases
ABCB5 is associated with several diseases, including:
- Sitosterolemia: A rare inherited disorder characterized by high levels of plant sterols (sitosterol and campesterol) in the blood, leading to the formation of xanthomas (fatty deposits) on the skin and tendons.
- Cholestasis: A condition where bile flow is obstructed, resulting in the accumulation of bile acids in the liver and blood.
- Intrahepatic cholestasis of pregnancy: A transient cholestatic liver disease that occurs during pregnancy.
- Primary biliary cholangitis: A chronic autoimmune disease that affects the bile ducts in the liver.
- Primary sclerosing cholangitis: A chronic inflammatory disease that affects the bile ducts in and outside the liver.
Did you Know ?
ABCB5 mutations are estimated to affect approximately 1 in 100,000 individuals, making sitosterolemia a relatively rare disorder.
