DISEASES

Disease-gene associations mined from literature

Literature associating GJA8 and congenital nystagmus

GJA8 [ENSP00000358238]

Gap junction alpha-8 protein; Structural component of eye lens gap junctions . Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:18006672, PubMed:19756179).

Synonyms:  GJA8,  GJA8p,  hGJA8,  P48165,  X5D7G1 ...

Linkouts:  STRING  Pharos  UniProt