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ABCB11基因,也称BSEP基因,其编码的蛋白称为ABCB11蛋白,是ABC转运蛋白超家族B族成员之一。ABCB11基因的表达主要受法尼醇X受体(FXR)调控。近年研究发现,一些药物或体内的代谢产物等对ABCB11基因的调控及由基因变异等因素引起的相关蛋白功能障碍,可能在妊娠期肝内胆汁淤积症(ICP)发病中发挥重要作用,并且ABCB11基因有可能成为靶基因而作为ICP基因治疗的一种手段。
The ABCB11 gene, also known as the BSEP gene, encodes the protein ABCB11, which is a member of the B family of ABC transporters superfamily. The expression of ABCB11 gene is mainly regulated by farnesoid X receptor (FXR). Recent studies have found that the regulation of ABCB11 gene and related protein dysfunction caused by factors such as some drugs or in vivo metabolites may play an important role in the pathogenesis of intrahepatic cholestasis of pregnancy (ICP), and ABCB11 Genes may become target genes as a means of ICP gene therapy.