GJA1
GJA1, also known as connexin 43 (CX43), is a member of the connexin family and a structural component of the gap junction. It forms intercellular channels that let small molecules and electrical signals pass between neighbouring cells. Browse Assay Genie's current range of GJA1 research reagents below, or read on for the biology behind the target.
GJA1 is a structural component of the gap junction, a specialised intercellular structure made of closely packed pairs of transmembrane channels called connexons. These channels allow small molecules and electrical signals to pass between neighbouring cells. The GJA1 protein forms homotypic and heterotypic channels that are gated by transjunctional voltage. Beyond direct coupling, it is involved in intercellular innate immune signalling: it mediates translocation of the second messengers 2',3'-cGAMP and 2',5'-oligoadenylates (2-5A) from virus-infected cells to macrophages and uninfected neighbouring cells, which propagates and amplifies the antiviral immune response.
The GJA1 gene belongs to the connexin gene family, and the protein is assigned to the alpha-type (group II) subfamily. It is the major gap junction protein in the heart, where it is thought to have a crucial role in the synchronised contraction of the heart and in embryonic development. UniProt annotates the protein at the cell membrane and gap junction, and also in the endoplasmic reticulum. Further proposed roles include the conductive system of ventricular myocardium and heart morphogenesis, cell growth inhibition through regulation of NOV expression and localisation, and recycling of potassium to the cochlear endolymph in hearing. It also acts as a negative regulator of bladder functional capacity by sensitising bladder muscles to cholinergic neural stimuli.
Mutations in GJA1 have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. A related intronless pseudogene has been mapped to chromosome 5. Previous names include gap junction protein, alpha 1, 43kDa (connexin 43), and aliases include CX43, ODD, ODOD, SDTY3, ODDD and GJAL. Mouse and rat orthologs are both named Gja1.
GJA1 is the major gap junction protein in the heart and is thought to support synchronised contraction and heart morphogenesis.
GJA1 mediates transfer of 2',3'-cGAMP and 2-5A second messengers between cells, propagating the antiviral immune response.
Mutations in GJA1 are linked to oculodentodigital dysplasia, craniometaphyseal dysplasia and heart malformations, making it a focus for disease studies.
GJA1 may contribute to potassium recycling in the cochlea and negatively regulates bladder functional capacity by enhancing intercellular transmission.
GJA1 is a structural component of gap junctions, forming channels that pass small molecules and electrical signals between neighbouring cells. It forms homotypic and heterotypic channels gated by transjunctional voltage, and it also carries cGAMP and 2-5A second messengers to propagate antiviral immune signalling.
GJA1 is widely called connexin 43 or CX43. Other aliases are ODD, ODOD, SDTY3, ODDD and GJAL. Earlier gene names include gap junction protein, alpha 1, 43kDa (connexin 43) and gap junction protein, alpha-like. The HGNC full name is gap junction protein alpha 1.
Mutations in GJA1 have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. Orthologs exist in mouse and rat, both named Gja1; check the datasheet of any product for its validated reactivity.
Other alpha-type connexins and gap junction proteins with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P17302; product specifications from Assay Genie datasheets.