中华耳科学杂志2016，Vol.14Issue(2)：299-303,5.DOI:10.3969/j.issn.1672-2922.2016.02.035
TBC1D24基因的致聋机制研究进展
Research Progress on Pathogenic Mechanisms of Deafness Caused by TBC1D24 gene
陈鹏辉 1杨涛2
作者信息
- 1. 上海交通大学医学院附属新华医院耳鼻咽喉-头颈外科
- 2. 上海交通大学医学院耳科学研究所
- 折叠
摘要
Abstract
TBC1D24 gene encodes a protein containing TBC domain and TLDc domain. The pleiotropic gene has a complex genotype-phenotype correlation. Different mutations result in severe-profound congenital deafness or delayed/pro-gressive deafness and developmental disorders of nerve and/or skeletal systems. In the inner ear, TBC1D24 is expressed in the spiral ganglion and the hair cell cilia, which has the specific special and temporal expression pattern. The functional study of this gene will help us to understand the development of auditory and neural system and molecular pathogenesis of related diseases.关键词
TBC1D24/螺旋神经节/静纤毛/耳聋基因Key words
TBC1D24/spiral ganglion/hair cell cilia/deafness gene分类
医药卫生引用本文复制引用
陈鹏辉,杨涛..TBC1D24基因的致聋机制研究进展[J].中华耳科学杂志,2016,14(2):299-303,5.
