Disease-gene associations mined from literature

Literature associating GJD2 and alternating hemiplegia of childhood

GJD2 [ENSP00000290374]

Gap junction protein, delta 2, 36kDa; 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:  GJD2,  GJD2p,  hGJD2,  Q9UKL4,  GJA9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM