DISEASES

Disease-gene associations mined from literature

Literature associating GJD4 and Usher syndrome type 1

GJD4 [ENSP00000315070]

Gap junction protein, delta 4, 40.1kDa; 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:  GJD4,  GJD4p,  hGJD4,  Q96KN9,  CX40.1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM