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 and Deafness, Autosomal Recessive. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJC2.
UniProtKB/Swiss-Prot 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).