Aliases for GJC3 Gene
External Ids for GJC3 Gene
Previous HGNC Symbols for GJC3 Gene
Previous GeneCards Identifiers for GJC3 Gene
This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]
GeneCards Summary for GJC3 Gene
GJC3 (Gap Junction Protein, Gamma 3, 30.2kDa) is a Protein Coding gene. Diseases associated with GJC3 include erythrokeratodermia variabilis et progressiva. Among its related pathways are Signaling in Gap Junctions. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJD4.
UniProtKB/Swiss-Prot for GJC3 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).