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Genetics Home Reference: your guide to understanding genetic conditions
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SLCO1B1

Reviewed March 2013

What is the official name of the SLCO1B1 gene?

The official name of this gene is “solute carrier organic anion transporter family, member 1B1.”

SLCO1B1 is the gene's official symbol. The SLCO1B1 gene is also known by other names, listed below.

What is the normal function of the SLCO1B1 gene?

The SLCO1B1 gene provides instructions for making a protein called organic anion transporting polypeptide 1B1, or OATP1B1. 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 OATP1B1 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 OATP1B1 protein also transports certain hormones, toxins, and drugs into the liver for removal from the body. Drugs transported by the OATP1B1 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 SLCO1B1 gene share characteristics with other genes?

The SLCO1B1 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.

How are changes in the SLCO1B1 gene related to health conditions?

Rotor syndrome - caused by mutations in the SLCO1B1 gene

Mutations in the SLCO1B1 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 SLCO1B1 gene and a related gene called SLCO1B3. This related gene provides instructions for making a protein called OATP1B3, which has a similar transport function to OATP1B1. In some cases, the condition is caused by a deletion of genetic material that removes parts of both the SLCO1B1 and SLCO1B3 genes, so no functional OATP1B1 or OATP1B3 protein is made. Most mutations that cause Rotor syndrome lead to abnormally short, nonfunctioning OATP1B1 and OATP1B3 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.

other disorders - increased risk from variations of the SLCO1B1 gene

Certain common variations (polymorphisms) in the SLCO1B1 gene are associated with a reduced ability to process certain drugs, including statins. The most widely studied polymorphism associated with this abnormality, which is found in approximately 15 percent of the population, changes a single protein building block in the OATP1B1 protein: the amino acid valine at position 174 is replaced with the amino acid alanine (written as V174A or SLCO1B1*5). The protein produced from this version of the SLCO1B1 gene is less able to transport compounds into the liver, which leads to elevated levels of the compounds in the body.

When statins are not efficiently transported into the liver, they build up in the body, and can cause a condition known as statin-induced myopathy. This condition causes fatigue, pain, tenderness, weakness, and cramping in muscles. People with the V174A polymorphism who take statin drugs have an increased risk of developing statin-induced myopathy.

Where is the SLCO1B1 gene located?

Cytogenetic Location: 12p

Molecular Location on chromosome 12: base pairs 21,131,193 to 21,239,795

The SLCO1B1 gene is located on the short (p) arm of chromosome 12.

The SLCO1B1 gene is located on the short (p) arm of chromosome 12.

More precisely, the SLCO1B1 gene is located from base pair 21,131,193 to base pair 21,239,795 on chromosome 12.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SLCO1B1?

You and your healthcare professional may find the following resources about SLCO1B1 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 SLCO1B1 gene or gene products?

  • HBLRR
  • liver-specific organic anion transporter 1
  • LST1
  • LST-1
  • OATP1B1
  • OATP2
  • OATP-2
  • OATPC
  • OATP-C
  • SLC21A6
  • SO1B1_HUMAN
  • sodium-independent organic anion-transporting polypeptide 2
  • solute carrier family 21 member 6
  • solute carrier family 21 (organic anion transporter), member 6
  • solute carrier organic anion transporter family member 1B1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SLCO1B1?

alanine ; amino acid ; anion ; antibiotics ; bile ; bilirubin ; cancer ; carrier ; cholesterol ; deletion ; digestive ; gene ; jaundice ; polymorphism ; population ; protein ; sodium ; solute ; syndrome ; valine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Cui Y, König J, Leier I, Buchholz U, Keppler D. Hepatic uptake of bilirubin and its conjugates by the human organic anion transporter SLC21A6. J Biol Chem. 2001 Mar 30;276(13):9626-30. Epub 2000 Dec 27. (http://www.ncbi.nlm.nih.gov/pubmed/11134001?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10599)
  • Niemi M, Pasanen MK, Neuvonen PJ. Organic anion transporting polypeptide 1B1: a genetically polymorphic transporter of major importance for hepatic drug uptake. Pharmacol Rev. 2011 Mar;63(1):157-81. doi: 10.1124/pr.110.002857. Epub 2011 Jan 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21245207?dopt=Abstract)
  • OMIM: SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1 (http://omim.org/entry/604843)
  • SEARCH Collaborative Group, Link E, Parish S, Armitage J, Bowman L, Heath S, Matsuda F, Gut I, Lathrop M, Collins R. SLCO1B1 variants and statin-induced myopathy--a genomewide study. N Engl J Med. 2008 Aug 21;359(8):789-99. doi: 10.1056/NEJMoa0801936. Epub 2008 Jul 23. (http://www.ncbi.nlm.nih.gov/pubmed/18650507?dopt=Abstract)
  • van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest. 2012 Feb 1;122(2):519-28. doi: 10.1172/JCI59526. Epub 2012 Jan 9. (http://www.ncbi.nlm.nih.gov/pubmed/22232210?dopt=Abstract)
  • Voora D, Shah SH, Spasojevic I, Ali S, Reed CR, Salisbury BA, Ginsburg GS. The SLCO1B1*5 genetic variant is associated with statin-induced side effects. J Am Coll Cardiol. 2009 Oct 20;54(17):1609-16. doi: 10.1016/j.jacc.2009.04.053. (http://www.ncbi.nlm.nih.gov/pubmed/19833260?dopt=Abstract)

 

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.

 
Reviewed: March 2013
Published: April 17, 2014