GJA1 Antibody

Alternative Names Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein), GJA1, GJAL
Antigen GJA1
Categories Primary Antibodies

Alternative Names :
Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein), GJA1, GJAL

Description :
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).

Involvement In Disease :
Oculodentodigital dysplasia (ODDD); Oculodentodigital dysplasia, autosomal recessive (ODDD-AR); Syndactyly 3 (SDTY3); Hypoplastic left heart syndrome 1 (HLHS1); Hallermann-Streiff syndrome (HSS); Atrioventricular septal defect 3 (AVSD3); Craniometaphyseal dysplasia, autosomal recessive (CMDR); Erythrokeratodermia variabilis et progressiva 3 (EKVP3); Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1)

Relevance :
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).

Subcellular Location :
Cell membrane, Multi-pass membrane protein, Cell junction, gap junction, Endoplasmic reticulum

Database Links :
HGNC:4274
OMIM:104100
KEGG:hsa:2697
STRING:9606.ENSP00000282561
UniGene:Hs.700699

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