免疫原
Synthesized peptide derived from human Connexin 43 (Phospho-Ser373)
特异性
This antibody detects endogenous levels of Connexin 43 (Phospho-Ser373) at Human, Mouse,Rat
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, and 0.119% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景（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. [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
基因名称（Gene Name）
GJA1 GJAL
蛋白名称
Connexin 43 (Phospho-Ser373)
其他名称
Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein)
Fields
>>Gap junction;>>Arrhythmogenic right ventricular cardiomyopathy
细胞定位
Cell membrane ; Multi-pass membrane protein . Cell junction, gap junction . Endoplasmic reticulum . Localizes at the intercalated disk (ICD) in cardiomyocytes and the proper localization at ICD is dependent on TMEM65. .
组织表达
Expressed in the heart and fetal cochlea.
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