Aliases for GJB4 Gene
External Ids for GJB4 Gene
Previous GeneCards Identifiers for GJB4 Gene
This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
GeneCards Summary for GJB4 Gene
GJB4 (Gap Junction Protein Beta 4) is a Protein Coding gene. Diseases associated with GJB4 include erythrokeratodermia variabilis et progressiva and gjb4-related erythrokeratodermia variabilis. Among its related pathways are Signaling in Gap Junctions and Myometrial Relaxation and Contraction Pathways. An important paralog of this gene is GJC2.
UniProtKB/Swiss-Prot for GJB4 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).