ABCC13
ABCC13: A Multifaceted Protein with Implications for Health and Disease
Description
ABCC13, also known as multidrug resistance-associated protein 4 (MRP4), is a transmembrane protein belonging to the ATP-binding cassette (ABC) transporter superfamily. It is primarily located in the canalicular membrane of hepatocytes and is responsible for the transport of various substrates across cell membranes. ABCC13 plays a crucial role in the efflux of xenobiotics, including drugs, toxins, and bile acids, from hepatocytes into bile.
Associated Diseases
Dysregulation of ABCC13 has been implicated in a range of liver diseases, including:
- Intrahepatic cholestasis: Mutations or polymorphisms in ABCC13 can disrupt bile flow, leading to the accumulation of toxic bile acids in the liver.
- Drug-induced liver injury (DILI): ABCC13 plays a role in the excretion of certain drugs, and its impairment can increase their accumulation in the liver, resulting in hepatotoxicity.
- Nonalcoholic fatty liver disease (NAFLD): Aberrant ABCC13 expression has been associated with the development and progression of NAFLD.
Did you Know ?
Studies have shown that polymorphisms in the ABCC13 gene are common in the human population, with certain variants being associated with an increased risk of intrahepatic cholestasis and DILI. For example, the ABCC13 -346C>T variant has been reported to be present in up to 15% of individuals in some population groups.