SLCO1B1
Description
The SLC01B1 gene, also known as the organic anion transporting polypeptide 1B1 (OATP1B1), is a vital component of the liver‘s detoxification system. It plays a crucial role in the uptake of bile acids, bilirubin, and various drugs from the bloodstream into hepatocytes, where they are processed and eliminated from the body. This gene‘s protein product is located on the cell membrane of liver cells, acting as a transporter for a wide array of molecules, making it a significant player in maintaining liver health and overall metabolism.
Associated Diseases
- Gilbert‘s syndrome: A benign condition characterized by mild hyperbilirubinemia due to reduced bilirubin uptake by the liver.
- Dubin-Johnson syndrome: A rare genetic disorder that causes a buildup of bilirubin in the body due to impaired bilirubin excretion.
- Crigler-Najjar syndrome: A rare and serious genetic disorder resulting in severe hyperbilirubinemia due to a complete lack of OATP1B1 activity.
- Drug-induced liver injury: OATP1B1 is involved in the uptake of numerous drugs, and genetic variations in this gene can affect drug metabolism and increase the risk of liver damage.
Did you know?
The SLC01B1 gene is highly polymorphic, meaning it exhibits numerous variations within the population. These variations can significantly influence the activity of the OATP1B1 protein, affecting drug metabolism and individual responses to medications.
