Disease-gene associations mined from literature

Literature associating GJB6 and Clouston syndrome

GJB6 [ENSP00000348521]

Gap junction protein, beta 6, 30kDa; 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; Belongs to the connexin family. Beta-type (group I) subfamily.

Synonyms:  GJB6,  GJB6p,  hGJB6,  A0A024RDS4,  O95452 ...

Linkouts:  STRING  Pharos  UniProt