| Gene Symbol | GJA1 |
|---|---|
| Entrez Gene | 2697 |
| Alt Symbol | AVSD3, CMDR, CX43, GJAL, HLHS1, HSS, ODDD |
| Species | Human |
| Gene Type | protein-coding |
| Description | gap junction protein, alpha 1, 43kDa |
| Other Description | connexin 43|connexin-43|gap junction 43 kDa heart protein|gap junction alpha-1 protein |
| Swissprots | P17302 Q9Y5I8 Q6FHU1 B2R5U9 |
| Accessions | AAD37802 EAW48178 P17302 AK223289 BAD97009 AK294670 BAG57837 AK295460 BAG58393 AK297402 BAG59841 AK297761 BAG60109 AK297764 BAG60112 AK309377 AK309490 AK312324 BAG35246 AW664595 BC026329 AAH26329 BP226987 CR541660 CAG46461 DQ893649 ABM84575 DQ895611 ABM86537 M65188 AAA52131 X52947 CAA37122 NM_000165 NP_000156 |
| Function | 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). {ECO:0000250}. |
| Subcellular Location | Cell membrane {ECO:0000269|PubMed:22411987}; Multi-pass membrane protein {ECO:0000269|PubMed:22411987}. Cell junction, gap junction {ECO:0000269|PubMed:22411987}. |
| Tissue Specificity | Expressed in the heart and fetal cochlea. {ECO:0000269|PubMed:11741837}. |
| Top Pathways | Gap junction, Arrhythmogenic right ventricular cardiomyopathy (ARVC) |