CX31 antibody, DFNA2 antibody, DFNA2B antibody, EKV antibody, Cnx31 antibody, Cx31 antibody, D4Wsu144e antibody, Gjb-3 antibody, ekv antibody, cx31 antibody, dfna2 antibody, gjb3b antibody, dfna2b antibody, connexin-31 antibody, gap junction protein beta 3 antibody, gap junction protein, beta 3 antibody, gap junction protein beta 3 L homeolog antibody, GJB3 antibody, Gjb3 antibody, gjb3.L antibody, gjb3 antibody
背景
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. Synonyms: EKV, CX31, DFNA2, DFNA2B