RNA结合蛋白RBM10及其涉及的主要疾患  

RNA-binding protein RBM10 and its related major diseases

作　　者：刘祎 张小玲[1] LIU Yi;ZHANG Xiaoling(Guilin Medical University,Guilin 541199,China)

机构地区：[1]桂林医学院,广西桂林541199

出　　处：《华夏医学》2022年第3期135-139,共5页Acta Medicinae Sinica

基　　金：国家自然科学基金项目(81660485);广西自然科学基金项目(2020GXNSFAA159131)。

摘　　要：RBM10是一种RNA结合蛋白(RBP),它主要通过选择性剪接(AS)事件来调节多种基因的表达,从而起到抑制细胞增殖,促进细胞凋亡的作用。近年来,研究发现RBM10的突变可以导致多种人类疾病发生,尤其与先天发育异常综合征肺癌肾细胞癌等疾病的发生发展关系密切,因此受到越来越多科研者们的关注。本文就RBM10蛋白结构、RBM10基因突变涉及的主要疾病以及相关信号通路作一综述。RBM10 is an RNA-binding protein(RBP),which mainly regulates the expression of multiple genes through alternative splicing(AS)evens,thereby inhibiting cell proliferation and promoting cell apoptosis.In recent years,it has been found that RBM10 mutations can lead to a variety of human diseases,especially the occurrence and development of congenital dysplasia syndrome,lung cancer,renal cell carcinoma etc.,so more and more researchers pay close attention to it.This review focuses on the structure of RBM10 protein,main diseases and related signaling pathways involved in RBM10 gene mutation.

关 键 词：RBM10 选择性剪接(AS) 先天发育异常综合征 恶性肿瘤 

分 类 号：R730[医药卫生—肿瘤] Q7[医药卫生—临床医学]