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 palmoplantar keratoderma and woolly hair. 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).