靶标:
GJB6
产品别名:
CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2; GJB6; gap junction protein beta 6; gap junction protein beta 6; gap junction beta-6 protein; connexin 30; ectodermal dysplasia 2, hidrotic (Clouston syndrome); gap junction protein, beta 6, 30kDa; 间隙连接蛋白30/GJB6; 间隙连接蛋白β6(GJb6);
背景信息:
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia.