Advances in the ABCB4 gene in cholestatic disorders |
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Authors: | GONG Lei LI Tie-chen |
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Affiliation: | Laboratory of Medical Genetics, Wannan Medical College, Wuhu 241001, China. litiechen@yahoo.com.cn |
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Abstract: | The ABCB4 gene, also called MDR3, encodes the MDR3 protein which is localized to the hepatocyte canalicular membrane and is demonstrated to be a phosphatidylcholine translocase. The recent study showed that ABCB4 deficiency was associated with several cholestatic disorders, but the pathogenesis is not clear. This review highlights recent advances in the structure and function of ABCB4 gene, and the relationship between ABCB4 gene and cholestatic diseases. |
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Keywords: | Gene ABCB4 Cholestasis intrahepatic Cholelithiasis |
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