Disease-gene associations mined from literature

Literature associating GJB1 and Charcot-Marie-Tooth disease type 1D

GJB1 [ENSP00000363134]

Gap junction protein, beta 1, 32kDa; 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.

Synonyms:  GJB1,  GJB1p,  hGJB1,  C9JWU8,  P08034 ...

Linkouts:  STRING  Pharos  UniProt