Rabconnectin-3α蛋白在听神经及毛细胞的病理生理学方面的生物学功能

发布时间：2018-04-28 19:47

本文选题：rabconnectinα + dmxl-　；参考：《中华耳科学杂志》2017年03期

【摘要】：Rabconnectin-3(rbc3)蛋白是rab小G蛋白家族中的成员之一,有α和β两个亚基。其中人rbc3α由定位于15号染色体长臂2区1带的dmxl-2(dmx like-2)基因编码,由3036个氨基酸组成,相对分子质量Mr为339,753,包含12个结构域;研究发现,rbc3α表达于啮齿类、灵长类动物的脑组织、内耳,并且在斑马鱼侧线器官亦有表达。随着临床研究的深入,发现rbc3α蛋白除了会导致听力下降以外[1],还与多种疾病相关。例如dmxl-2突变可影响激素治疗乳腺癌的效果[2];与芳香化酶过剩综合征[3]也有联系。因此rbc3α的生物学功能成为了近来研究的热点。本文将对近几年关于rbc3α在听神经及毛细胞病理生理学方面的生物学功能的研究进展进行综述。
[Abstract]:Rabconnectin-3 (rbc3) protein is a member of the small G protein family of rab, with two subunits 伪 and 尾. Human rbc3 伪 is encoded by a dmxl-2(dmx like -2) gene located in region 2 of chromosome 15. It consists of 3036 amino acids with a relative molecular weight of 339753 and contains 12 domains. It was found that rbc3 伪 is expressed in the brain of rodents and primates. The inner ear is also expressed in the lateral organs of zebrafish. With the development of clinical research, it has been found that rbc3 伪 protein is associated with many diseases besides hearing loss. For example, dmxl-2 mutation may affect the effect of hormone therapy on breast cancer [2] and is also associated with aromatase excess syndrome [3]. Therefore, the biological function of rbc3 伪 has become a hot topic in recent studies. This paper reviews the recent advances in the study of the biological function of rbc3 伪 in the pathophysiology of auditory nerve and hair cells.
【作者单位】：上海交通大学医学院附属第九人民医院耳鼻咽喉-头颈外科;上海交通大学耳科学研究所;上海市耳鼻疾病转化医学重点实验室;
【基金】：国家自然科学基金(81570906) 上海市科委基础重大项目(14DJ1400200) 上海市科学技术委员会的课题支持,编号为14DZ2260300~~
【分类号】：R764

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