ABCB4基因的相关疾病研究进展

ABCB4基因编码多药耐药蛋白3（MDR3）主要表达于肝细胞的毛细胆管膜,为磷脂酰胆碱转出酶,将卵磷脂从磷脂双分子层内侧转至膜外的胆汁内。ABCB4基因突变可导致MDR3表达下降和/或功能缺陷从而导致ABCB4缺陷症。随着基因测序的普及和公众对精准医疗的需求,对该基因的深入研究可对以基因型为基础的新治疗方案进行指导。现对ABCB4基因功能和所致疾病新进展进行综述,旨在加强临床医师对ABCB4基因相关疾病的认识。

Research progress of ABCB4 gene

ATP binding cassette subfamily B member 4 (ABCB4), also known as multidrug resistance protein 3 (MDR3), is encoded by the ABCB4 gene and mainly expressed on canalicular membrane of hepatocytes as a lipid translocator that exports phosphatidylcholine from the inner of the canalicular membrane of the hepatocytes into the bile. Mutations in the ABCB4 gene may cause the decreased expression and/or functional defects of MDR3, leading to a group of liver diseases called ABCB4 deficiency. With the popularization of gene sequencing and the increasing public demand for precision medicine, the in-depth study of this gene may provide insights into novel treatment regimens based on the genotypes. In this review, we aim to deepen the understanding of ABCB4 gene-related diseases among clinicians by summarizing the research progress of the function of ABCB4 gene and the related diseases.