Recombinant Human Gap junction beta-3 protein (GJB3), Truncated

Uniprot Id

O75712

Target Species

Human

Target Name

GJB3

Target Full Name

Gap junction beta-3 protein

Target 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.

Target Involvement

Erythrokeratodermia variabilis et progressiva 1 (EKVP1); Deafness, autosomal dominant, 2B (DFNA2B)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Target Protein Families

Connexin family, Beta-type (group I) subfamily

Target Synonyms

GJB3; CX31; Gap junction beta-3 protein; Connexin-31; Cx31

Target Background

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.