Recombinant Human Gap junction alpha-1 protein (GJA1), Truncated

Uniprot Id

P17302

Target Species

Human

Target Name

GJA1

Target Full Name

Gap junction alpha-1 protein

Target 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. 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.

Target Involvement

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)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. Endoplasmic reticulum.

Target Protein Families

Connexin family, Alpha-type (group II) subfamily

Target Tissue Specificity

Expressed in the heart and fetal cochlea.

Target Research Area

Signal Transduction

Target Synonyms

GJA1; GJAL; Gap junction alpha-1 protein; Connexin-43; Cx43; Gap junction 43 kDa heart protein

Target Background

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.