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 ...