🧬 基因注释：GJB3
📝 官方信息
官方名称：gap junction protein beta 3
功能摘要：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].
🏥 关联疾病
该基因暂无关联疾病记录