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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Rotor syndrome


Other Names for this Disease
  • Hyperbilirubinemia, Rotor type
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Cause


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What causes Rotor syndrome?

The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. These genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells where they transport bilirubin and other compounds from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body.[1]

The SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.[1]

Last updated: 12/12/2013

References
  1. Rotor syndrome. Genetics Home Reference (GHR). March 2013; http://ghr.nlm.nih.gov/condition/rotor-syndrome. Accessed 12/12/2013.