DISEASES

Disease-gene associations mined from literature

Literature associating GJD3 and hypomyelinating leukodystrophy 2

GJD3 [ENSP00000463752]

Gap junction delta-3 protein; 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. Delta-type subfamily.

Synonyms:  GJD3,  GJD3p,  hGJD3,  Q8N144,  Q8N144p ...

Linkouts:  STRING  Pharos  UniProt