基因名:
GJB1
产品别名:
CMTX; CMTX1; CX32; GJB1; gap junction protein beta 1; gap junction protein beta 1; gap junction beta-1 protein; GAP junction 28 kDa liver protein; connexin-32; gap junction protein, beta 1, 32kDa; 间隙连接蛋白32; 间隙连接蛋白β1(GJb1); 间隙连接蛋白β1(GJb1)合成多肽;
背景信息:
Vascular smooth muscle connexin-32 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. The protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations.