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 Posterior Polar Cataract. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJA8.
UniProtKB/Swiss-Prot Summary for GJA3 Gene
Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:30044662).
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).