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The official name of this gene is “solute carrier organic anion transporter family, member 1B3.”
SLCO1B3 is the gene's official symbol. The SLCO1B3 gene is also known by other names, listed below.
The SLCO1B3 gene provides instructions for making a protein called organic anion transporting polypeptide 1B3, or OATP1B3. This protein is found in liver cells; it transports compounds from the blood into the liver so that they can be cleared from the body. For example, the OATP1B3 protein transports bilirubin, which is a yellowish substance that is produced when red blood cells are broken down. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body. The OATP1B3 protein also transports certain hormones, toxins, and drugs into the liver for removal from the body. Some of the drugs transported by the OATP1B3 protein include statins, which are used to treat high cholesterol; heart disease medications; certain antibiotics; and some drugs used for the treatment of cancer.
The SLCO1B3 gene belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
Mutations in the SLCO1B3 gene are involved in Rotor syndrome. This condition is characterized by elevated levels of bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). For this condition to occur, individuals must have mutations in the SLCO1B3 gene and a related gene called SLCO1B1. This related gene provides instructions for making a protein called OATP1B1, which has a similar transport function to OATP1B3. In some cases, the condition is caused by a deletion of genetic material that removes parts of both the SLCO1B3 and SLCO1B1 genes, so no functional OATP1B3 or OATP1B1 protein is made. Most mutations that cause Rotor syndrome lead to abnormally short, nonfunctioning OATP1B3 and OATP1B1 proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and cleared from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.
Cytogenetic Location: 12p12
Molecular Location on chromosome 12: base pairs 20,810,703 to 20,916,910
The SLCO1B3 gene is located on the short (p) arm of chromosome 12 at position 12.
More precisely, the SLCO1B3 gene is located from base pair 20,810,703 to base pair 20,916,910 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SLCO1B3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
anion ; antibiotics ; bile ; bilirubin ; cancer ; carrier ; cholesterol ; deletion ; digestive ; gene ; jaundice ; protein ; solute ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.