GJB3

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq]

Full Name

gap junction protein, beta 3, 31kDa

Function

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.

Biological Process

Cell-cell signaling Source: GO_Central
Cellular response to retinoic acid Source: Ensembl
In utero embryonic development Source: Ensembl
Placenta development Source: Ensembl
Skin development Source: Ensembl
Spermatogenesis Source: Ensembl

Cellular Location

Cell membrane; Gap junction

Involvement in disease

Erythrokeratodermia variabilis et progressiva 1 (EKVP1):
A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
Deafness, autosomal dominant, 2B (DFNA2B):
A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.

Topology

Cytoplasmic: 1-20
Helical: 21-40
Extracellular: 41-75
Helical: 76-98
Cytoplasmic: 99-126
Helical: 127-149
Extracellular: 150-187
Helical: 188-210
Cytoplasmic: 211-270