Disease-gene associations mined from literature

Literature associating GJB2 and keratosis

GJB2 [ENSP00000372295]

Gap junction beta-2 protein; Structural component of gap junctions (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910, PubMed:16849369, PubMed:19384972). 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 (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore . ECO:0000269|PubMed:19340074, ECO:0000269|PubMed:19384972,

Synonyms:  GJB2,  GJB2p,  hGJB2,  H9U1J4,  P29033 ...

Linkouts:  STRING  Pharos  UniProt  OMIM