Aliases for GJB3 Gene
External Ids for GJB3 Gene
Previous HGNC Symbols for GJB3 Gene
Previous GeneCards Identifiers for GJB3 Gene
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, Jul 2008]
GeneCards Summary for GJB3 Gene
GJB3 (Gap Junction Protein Beta 3) is a Protein Coding gene. Diseases associated with GJB3 include Erythrokeratodermia Variabilis Et Progressiva 1 and Deafness, Autosomal Dominant 2B. Among its related pathways are Development Slit-Robo signaling and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB4.
UniProtKB/Swiss-Prot Summary for GJB3 Gene
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.
Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).