基因名称(Gene Name)
GJA1 GJAL
蛋白名称
Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein)
免疫原
Synthesized peptide derived from human Connexin 43 (Phospho Ser279)
特异性
This antibody detects endogenous levels of Connexin 43 (Phospho Ser279) Rabbit pAb at Human, Mouse,Rat
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
稀释比例
WB 1:500-2000 IHC 1:50-200
纯化工艺
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
其他名称
Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein)
背景
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],
功能
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
