Aliases for GJA3 Gene
External Ids for GJA3 Gene
Previous HGNC Symbols for GJA3 Gene
Previous GeneCards Identifiers for GJA3 Gene
The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
GeneCards Summary for GJA3 Gene
GJA3 (Gap Junction Protein Alpha 3) is a Protein Coding gene. Diseases associated with GJA3 include Cataract 14, Multiple Types and Early-Onset Nuclear Cataract. Among its related pathways are Vesicle-mediated transport and Gap junction trafficking. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJA8.
UniProtKB/Swiss-Prot for GJA3 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).