基因名:
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:
The connexin family of proteins form hexameric complexes called connexons that facilitate movement of low molecular weight proteins between cells via gap junctions. Connexin proteins share a common topology of four transmembrane alpha-helical domains, two extracellular loops, a cytoplasmic loop and cytoplasmic N- and C-termini. Many of the key functional differences between connexins arise from specific amino-acid substitutions in the most highly conserved domains: the transmembrane and extracellular regions. Connexin 30, also known as GJB6 (Gap junction beta 6), ED2, EDH, HED or DFNA3, is a 261 amino acid multi-pass membrane protein that localizes to the cell junction and belongs to the connexin family. Functioning as a hexamer with other connexin proteins, connexin 30 facilitates the diffusion of low molecular weight materials from one cell to another. Defects in the gene encoding connexin 30 are the cause of ectodermal dysplasia type 2 (ED2) and non-syndromatic sensorineural deafness autosomal dominant type 3 (DFNA3), the former of which is characterized by abnormal development of ectodermal structures (such as skin and nails).