Aliases for GJA1 Gene
- Gap Junction Protein Alpha 1 2 3 5
- Gap Junction Protein, Alpha 1, 43kDa 2 3
- Gap Junction 43 KDa Heart Protein 3 4
- Gap Junction Alpha-1 Protein 3 4
- Connexin-43 3 4
- CX43 2 3
- GJAL 3 4
- Gap Junction Protein, Alpha 1, 43kDa (Connexin 43) 2
- Oculodentodigital Dysplasia (Syndactyly Type III) 2
- Gap Junction Protein, Alpha-Like 2
- Connexin 43 2
- AVSD3 3
External Ids for GJA1 Gene
Previous HGNC Symbols for GJA1 Gene
Previous GeneCards Identifiers for GJA1 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. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
GeneCards Summary for GJA1 Gene
GJA1 (Gap Junction Protein Alpha 1) is a Protein Coding gene. Diseases associated with GJA1 include Oculodentodigital Dysplasia and Syndactyly, Type Iii. Among its related pathways are Transport of connexins along the secretory pathway and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein domain specific binding. An important paralog of this gene is GJA3.
UniProtKB/Swiss-Prot Summary for GJA1 Gene
Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity).
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).