Aliases for GJC1 Gene
External Ids for GJC1 Gene
Previous HGNC Symbols for GJC1 Gene
Previous GeneCards Identifiers for GJC1 Gene
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for GJC1 Gene
GJC1 (Gap Junction Protein Gamma 1) is a Protein Coding gene. Diseases associated with GJC1 include Oculodentodigital Dysplasia and Sinoatrial Node Disease. Among its related pathways are Development Slit-Robo signaling and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include ion channel activity and gap junction channel activity. An important paralog of this gene is GJC2.
UniProtKB/Swiss-Prot Summary for GJC1 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).