ABCC11

ABCC11: A Comprehensive Overview

Description

ABCC11, also known as the multidrug resistance-associated protein 4 (MRP4), is a membrane transporter protein encoded by the ABCC11 gene. It belongs to the ATP-binding cassette (ABC) family of proteins, which play a crucial role in the transport of various molecules across cell membranes. ABCC11 is primarily located on the apical membrane of epithelial cells in tissues such as the liver, kidneys, and intestine.

Associated Diseases

Mutations in the ABCC11 gene have been linked to several diseases, including:

• Dubin-Johnson Syndrome: A rare inherited liver disorder characterized by conjugated hyperbilirubinemia, a condition where there is an excessive amount of bilirubin (a yellow pigment) in the blood.
• Progressive Familial Intrahepatic Cholestasis (PFIC) Type 3: A rare liver disease that leads to progressive destruction of bile ducts, resulting in liver failure.
• Pseudoxanthoma Elasticum (PXE): A genetic disorder that affects the skin, eyes, and cardiovascular system.
• Retinitis Pigmentosa (RP): A group of inherited eye diseases that cause progressive degeneration of the retina, leading to vision loss.

Did you Know ?

According to a study published in the journal "JAMA Dermatology," mutations in the ABCC11 gene are estimated to be the cause of approximately 20% of cases of pseudoxanthoma elasticum (PXE).