Disease-gene associations mined from literature

Literature associating GJC2 and hypomyelinating leukodystrophy 5

GJC2 [ENSP00000355675]

Gap junction protein, gamma 2, 47kDa; 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. May play a role in myelination in central and peripheral nervous systems.

Synonyms:  GJC2,  GJC2p,  hGJC2,  Q5T442,  CX46.6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM