Aliases for GJD4 Gene
External Ids for GJD4 Gene
Previous GeneCards Identifiers for GJD4 Gene
Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
GeneCards Summary for GJD4 Gene
GJD4 (Gap Junction Protein Delta 4) is a Protein Coding gene. Diseases associated with GJD4 include Deafness, Autosomal Recessive 33 and Usher Syndrome, Type Ik. Among its related pathways are Gap junction trafficking and Vesicle-mediated transport. An important paralog of this gene is GJA8.
UniProtKB/Swiss-Prot Summary for GJD4 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).