ABCC6P2
ABCC6P2: A Vital Transporter with Implications in Disease
Description:
ABCC6P2 (ATP-binding cassette subfamily C member 6 pseudogene 2) is a protein encoded by the ABCC6P2 gene in humans. It belongs to the superfamily of ATP-binding cassette (ABC) transporters, which play crucial roles in transporting various molecules across cellular membranes, including ions, organic compounds, and drugs.
ABCC6P2 is a pseudogene, meaning it does not code for a functional protein. However, it shares high sequence homology with its functional paralog, ABCC6 (ATP-binding cassette subfamily C member 6), which is involved in the transport of bile acids and other substances in the liver and pancreas.
Associated Diseases:
Dysregulation of ABCC6P2 and its functional paralog, ABCC6, has been linked to several diseases, including:
- Cholestasis: Impaired bile flow due to defects in bile acid transport.
- Liver diseases: Chronic liver diseases such as cirrhosis and non-alcoholic fatty liver disease.
- Pancreatitis: Inflammation of the pancreas, where ABCC6 is involved in the secretion of digestive enzymes.
- Type 2 diabetes: ABCC6 has been implicated in insulin resistance and glucose metabolism.
- Cancer: Reduced expression of ABCC6 has been associated with increased tumor progression and drug resistance in some cancers.
Did you Know ?
According to a study published in the journal Hepatology, genetic variations in ABCC6 and its pseudogene, ABCC6P2, are associated with a 1.5-fold increased risk of developing chronic liver disease in patients with hepatitis B virus infection.
