8qki

Structural highlights

Disease

CXB1_HUMAN X-linked Charcot-Marie-Tooth disease type 1;X-linked progressive cerebellar ataxia. The disease is caused by mutations affecting the gene represented in this entry. The gene represented in this entry may act as a disease modifier.

Function

CXB1_HUMAN One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.