缝隙连接蛋白30在汗性外胚层发育不良和遗传性耳聋中的研究进展  

Research Progress of Connexin 30 in Hidrotic Ectodermal Dysplasia and Hereditary Deafness

作　　者：赵月 许红恩 胡桑 毛璐 连成玉 张军喜 汤文学[3] ZHAO Yue;XU Hongen;HU Sang;MAO Lu;LIAN Chengyu;ZHANG Junxi;TANG Wenxue(Precision Medicine Center,Academy of Medical Sciences,Zhengzhou University,Zhengzhou 450052,China;Henan Key Laboratory of Population Defects Prevention,NHC Key Laboratory of Birth Defects Prevention,Zhengzhou 450002,China;the Research and Application Center of Precision Medicine,the Second Affiliated Hospital of Zhengzhou University,Zhengzhou 450014,China)

机构地区：[1]郑州大学医学科学院精准医学中心,河南郑州450052 [2]国家卫健委出生缺陷预防重点实验室,河南省人口缺陷预防重点实验室,河南郑州450002 [3]郑州大学第二附属医院精准医学研究应用中心,河南郑州450014

出　　处：《河南医学研究》2024年第20期3834-3840,共7页Henan Medical Research

基　　金：国家卫生健康委员会出生缺陷预防重点实验室开放基金项目(ZD202102);国家自然科学基金面上项目(82371160)。

摘　　要：缝隙连接蛋白30是由GJB6基因编码的一种跨膜蛋白,是构成相邻细胞间缝隙连接通道的蛋白家族成员之一,通过介导缝隙连接细胞间通信在表皮和内耳的稳态中起作用。GJB6致病变异可以导致显性/隐性遗传耳聋及汗性外胚层发育不良等疾病,但GJB6基因致病变异引起不同疾病的发病机制尚不完全明确。本文主要对GJB6致病变异所导致的疾病以及其发病机制进行综述,以期为新发现的GJB6基因致病变异的功能研究提供参考。Connexin 30 is a transmembrane protein encoded by the GJB6 gene and is a member of the protein family that forms gap junction channels between adjacent cells.It plays a role in the homeostasis of the epidermis and inner ear by mediating gap junction intercellular communication.GJB6 pathogenic variants can cause dominant/recessive genetic deafness and hidrotic ectodermal dysplasia.However,the pathogenesis of different diseases caused by pathogenic mutations in the GJB6 gene is not completely understood.The article reviewed the diseases caused by GJB6 pathogenic variants and their pathogenesis to provide a reference for designing functional assays for novel GJB6 variants.

关 键 词：缝隙连接蛋白30 GJB6基因 遗传性耳聋 汗性外胚层发育不良 

分 类 号：R764.3[医药卫生—耳鼻咽喉科]