Gap junction beta-6 protein (GJB6), also known as connexin 30 (Cx30) — is a protein that in humans is encoded by the GJB6 gene.[5][6][7] Connexin 30 (Cx30) is one of several gap junction proteins expressed in the inner ear.[8] Mutations in gap junction genes have been found to lead to both syndromic and nonsyndromic deafness.[9] Mutations in this gene are associated with Clouston syndrome (i.e., hydrotic ectodermal dysplasia).
Quick Facts Identifiers, Aliases ...
GJB6 |
---|
|
Identifiers |
---|
Aliases | GJB6, CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, gap junction protein beta 6 |
---|
External IDs | OMIM: 604418; MGI: 107588; HomoloGene: 4936; GeneCards: GJB6; OMA:GJB6 - orthologs |
---|
|
|
|
|
Wikidata |
|
Close