Research Progress on Pathogenic Mechanisms of Deafness Caused by TBC1D24 gene
CHEN Penghui
YANG Tao
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.
Keywords：TBC1D24spiral ganglionhair cell ciliadeafness gene
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 299-303 )