Disease-gene associations mined from literature

Literature associating GJB3 and Charcot-Marie-Tooth disease axonal type 2Q

GJB3 [ENSP00000362464]

Gap junction protein, beta 3, 31kDa; 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; Deafness associated genes

Synonyms:  GJB3,  GJB3p,  hGJB3,  A1YRJ5,  O75712 ...

Linkouts:  STRING  Pharos  UniProt