基因名:
GJB3
产品别名:
CX31; DFNA2; DFNA2B; EKV; EKVP1; GJB3; gap junction protein beta 3; gap junction protein beta 3; gap junction beta-3 protein; connexin 31; gap junction protein, beta 3, 31kDa; 间隙连接蛋白31; 间隙连接蛋白31(CX31);
背景信息:
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].