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 Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. 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).