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) is a Protein Coding gene. Diseases associated with GJC3 include Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma and Charcot-Marie-Tooth Disease, X-Linked Dominant, 1. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJB3.
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).