Reactive species
Human, Mouse,Rat
Antibody type
Polyclonal Antibody
Protein name
Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein)
Immunogen
Synthesized peptide derived from human Connexin 43 (Phospho Ser279)
Specificity
This antibody detects endogenous levels of Connexin 43 (Phospho Ser279) Rabbit pAb at Human, Mouse,Rat
Constitute
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 IHC 1:50-200
Purification process
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Other name
Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein)
Background
gap junction protein alpha 1(GJA1) Homo sapiens 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],
Function
caution:PubMed:11741837 reported 2 mutations (Phe-11 and Ala-24) linked to non-syndromic autosomal recessive deafness (DFNBG). These mutations have subsequently been shown (PubMed:12457340) to involve the pseudogene of connexin-43 located on chromosome 5.,caution:PubMed:7715640 reported a mutation Pro-364 linked to congenital heart diseases. This was later shown (PubMed:8873667) to be an artifact.,disease:Defects in GJA1 are a cause of hypoplastic left heart syndrome (HLHS) [MIM:241550]. HLHS refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.,disease:Defects in GJA1 are the cause of autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]; al
