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SLCO1B3

SLCO1B3

Reviewed March 2013

What is the official name of the SLCO1B3 gene?

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.

Read more about gene names and symbols on the About page.

What is the normal function of the SLCO1B3 gene?

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.

Does the SLCO1B3 gene share characteristics with other genes?

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? in the Handbook.

How are changes in the SLCO1B3 gene related to health conditions?

Rotor syndrome - caused by mutations in the SLCO1B3 gene

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.

Where is the SLCO1B3 gene located?

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.

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? in the Handbook.

Where can I find additional information about SLCO1B3?

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.

What other names do people use for the SLCO1B3 gene or gene products?

  • HBLRR
  • liver-specific organic anion transporter 2
  • LST-2
  • OATP1B3
  • OATP8
  • OATP-8
  • organic anion transporter 8
  • organic anion-transporting polypeptide 8
  • SLC21A8
  • SO1B3_HUMAN
  • solute carrier family 21 (organic anion transporter), member 8
  • solute carrier organic anion transporter family member 1B3

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SLCO1B3?

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.

See also Understanding Medical Terminology.

References (5 links)

 

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? in the Handbook.

 
Reviewed: March 2013
Published: December 16, 2014