SLCO1B3 gene
The SLCO1B3 gene provides instructions for a protein that transports compounds from the blood into the liver for clearance from the body.
Normal Function
The SLCO1B3 gene provides instructions for making a protein called organic anion transporting polypeptide 1B3, or OATP1B3. This protein is located in liver cells and is responsible for transporting various compounds from the blood into the liver to be cleared from the body. Substances transported by OATP1B3 include:
- Bilirubin: A yellowish substance produced when red blood cells break down.
- Hormones
- Toxins
- Drugs: Including statins, heart disease medications, certain antibiotics, and some cancer treatments.
Health Conditions Related to Genetic Changes
Rotor syndrome
Mutations in the SLCO1B3 gene are involved in Rotor syndrome, a condition characterized by elevated levels of bilirubin in the blood, which can cause jaundice (yellowing of the skin and whites of the eyes). For this condition to occur, an individual must have mutations in both the SLCO1B3 gene and a related gene called SLCO1B1.
The OATP1B1 protein has a similar transport function to OATP1B3. When both proteins are nonfunctional or absent—sometimes due to a deletion of genetic material affecting both genes—the liver cannot efficiently take up and clear bilirubin. This buildup of bilirubin results in the jaundice observed in individuals with Rotor syndrome.
