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人类ABCB11基因编码产生胆盐输出泵(BSEP),BSEP是位于肝细胞毛细胆管面上的重要转运体,将胆盐从肝细胞内转运到毛细胆管中,是形成胆汁流的最主要动力。由于ABCB11基因的变异会使BSEP的表达或功能受到影响,从而导致进行性家族性肝内胆汁淤积2型或良性复发性肝内胆汁淤积2型等疾病。ABCB11基因变异与妊娠期肝内胆汁淤积、原发性胆汁性肝硬化、原发性硬化性胆管炎及药物诱导的肝内胆汁淤积等疾病的关系近年来倍受关注。现就ABCB11基因变异与上述疾病的关系进行综述。
The human ABCB11 gene encodes a bile salt output pump (BSEP). BSEP, an important transporter located on the surface of the hepatocyte capillary bile duct, is the most important driver for the formation of biliary flow by transporting bile salts from hepatocytes to the bile ducts. Because of the mutation of ABCB11 gene, the expression or function of BSEP will be affected, leading to progressive familial intrahepatic cholestasis type 2 or benign recurrent intrahepatic cholestasis type 2 and other diseases. The relationship between ABCB11 gene mutation and intrahepatic cholestasis of pregnancy, primary biliary cirrhosis, primary sclerosing cholangitis and drug-induced intrahepatic cholestasis have attracted much attention in recent years. Now ABCB11 gene mutation and the relationship between the above diseases are reviewed.