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 2 and Erythrokeratodermia Variabilis Et Progressiva 1. Among its related pathways are Gap junction trafficking and Vesicle-mediated transport. An important paralog of this gene is GJB5.
UniProtKB/Swiss-Prot Summary for GJB4 Gene
Structural component of gap junctions (By similarity). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (By similarity).
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).