- Hyperbilirubinemia, Rotor type
Your QuestionThe underlying genetic cause for Rotor syndrome was recently indentified. Can you post information about this on your web site?
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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.
- Rotor syndrome. Genetics Home Reference (GHR). March 2013; http://ghr.nlm.nih.gov/condition/rotor-syndrome. Accessed 12/12/2013.