《生命科学》 2024, 36(7): 898-905

TBC蛋白在人类疾病中的研究进展

罗宇琦¹ , 林　洁² , 任　骏^2,*

¹复旦大学上海医学院，上海 200032 ²复旦大学附属中山医院心内科，上海市心血管病研究所，上海 200032

摘　要：

TBC 蛋白，作为含Tre2-Bub2-Cdc16 (TBC) 结构域的GTP 酶激活因子，对Rab 蛋白的负调控发挥着关键作用。这一结构域集成了Tre2 原癌基因、Bub2 酵母细胞周期调节蛋白和Cdc16 细胞分裂周期基因，显示出高度的进化保守性。通过调节Rab 蛋白的GTP-GDP 转换循环，TBC 蛋白在特异性细胞内运输中扮演着重要角色。它不仅在维持正常细胞生理过程中至关重要，而且其功能异常或突变与多种人类疾病的发生密切相关。该文综述了TBC 蛋白的结构特征、生化功能及在人类疾病中作用的最新研究成果，旨在深入理解其在疾病发展中的潜在机制。

通讯作者：任　骏 , Email:ren.jun@zs-hospital.sh.cn

Progress of TBC proteins in human diseases

LUO Yu-Qi¹ , LIN Jie² , REN Jun^2,*

¹Shanghai Medical College, Fudan University, Shanghai 200032, China ²Department of Cardiology, Zhongshan Hospital Fudan University, Shanghai Institute of Cardiovascular Disease, Shanghai 200032, China

Abstract:

TBC proteins, as Tre2-Bub2-Cdc16 (TBC) structural domain-containing GTPase activators, play a key role in the negative regulation of Rab proteins. This structural domain integrates the Tre2 proto-oncogene, the Bub2 yeast cell cycle regulatory protein, and the Cdc16 cell division cycle gene, showing a high degree of evolutionary conservation. By regulating the GTP-GDP transition cycle of Rab proteins, the TBC proteins play an important role in specific intracellular transport. It is not only essential in maintaining normal cellular physiological processes, but also its abnormal function or mutation is closely associated with the development of several human diseases. In this paper, we review the latest research results on the structural features, biochemical functions and roles of TBC  proteins in human diseases, aiming to gain a deeper understanding of their   potential mechanisms in disease  development.

Communication Author：REN Jun , Email:ren.jun@zs-hospital.sh.cn