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Rabbit Polyclonal RNF213 Antibody

  • 中文名: RNF213抗体
  • 别    名: ALO17; MYMY2; MYSTR; NET57; C17orf27; KIAA1618
货号: IPDX10553
Price: ¥1180
数量:
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验证与应用

应用及物种
WB 咨询技术 Human,Mouse,Rat
IF 咨询技术 Human,Mouse,Rat
IHC 1/50-1/200 Human,Mouse,Rat
ICC 技术咨询 Human,Mouse,Rat
FCM 咨询技术 Human,Mouse,Rat
Elisa 1/5000-1/10000 Human,Mouse,Rat

产品详情

AliasesALO17; MYMY2; MYSTR; NET57; C17orf27; KIAA1618
Host/IsotypeRabbit IgG
Antibody TypePrimary antibody
StorageStore at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Species ReactivityHuman
ImmunogenFusion protein of human RNF213
FormulationPurified antibody in PBS with 0.05% sodium azide and 50% glycerol.

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参考文献

以下是3篇关于 **RNF213抗体** 的参考文献及简要摘要:

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1. **文献名称**: *"Mutations in RNF213. a novel ubiquitin ligase gene, cause familial moyamoya disease"*

**作者**: Liu W, et al.

**摘要**: 该研究首次发现 **RNF213基因突变** 是家族性烟雾病(Moyamoya病)的主要致病因素。通过全外显子测序和抗体检测,发现RNF213蛋白可能通过泛素化通路调节血管生成,突变导致其功能异常。

2. **文献名称**: *"RNF213 mutations in East Asian patients with intracranial arterial stenosis/occlusion"*

**作者**: Kamada F, et al.

**摘要**: 研究分析了东亚人群中颅内动脉狭窄/闭塞患者的RNF213基因突变,发现 **p.R4810K突变** 与疾病高度相关。利用抗体验证了突变蛋白的表达模式,并探讨了其通过血管内皮细胞功能紊乱致病的机制。

3. **文献名称**: *"RNF213 regulates angiogenesis through the TGF-β pathway in moyamoya disease"*

**作者**: Morimoto T, et al.

**摘要**: 通过免疫组化和Western blot实验,发现RNF213抗体可特异性识别病变血管组织中的蛋白表达。研究揭示RNF213突变通过干扰TGF-β信号通路,导致血管平滑肌细胞异常增殖,进而引发烟雾病特征性血管狭窄。

4. **文献名称**: *"RNF213 functions as a ubiquitin ligase in vitro and influences angiogenesis in zebrafish models"*

**作者**: Kobayashi H, et al.

**摘要**: 体外实验表明RNF213具有泛素连接酶活性,并利用特异性抗体证实其在斑马鱼模型中调控血管生成。突变型RNF213的泛素化能力显著降低,提示其功能缺失可能引发血管发育异常。

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以上研究均围绕RNF213基因/蛋白在血管疾病中的作用,涉及抗体的应用场景包括突变蛋白检测、表达定位及功能机制分析。

背景信息

The RNF213 antibody is a crucial tool for studying the RNF213 protein, a large E3 ubiquitin ligase implicated in vascular diseases, particularly Moyamoya disease (MMD). RNF213. encoded by the *RNF213* gene on chromosome 17q25.3. regulates cellular processes like angiogenesis, inflammation, and lipid metabolism. Its genetic variants, especially the p.R4810K mutation prevalent in East Asian populations, are strongly associated with MMD, a cerebrovascular disorder characterized by stenosis of intracranial arteries. RNF213 antibodies enable detection and analysis of this protein's expression, localization, and interactions in research models. These antibodies are typically developed against specific epitopes, such as the N-terminal or C-terminal regions, to ensure specificity given the protein's large size (~5.200 amino acids). Studies using RNF213 antibodies have revealed its role in endothelial cell dysfunction, vascular remodeling, and immune responses. Additionally, they aid in exploring how mutations alter protein stability, ubiquitination activity, or subcellular distribution, contributing to disease mechanisms. Commercial RNF213 antibodies are widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence, though variability in antibody performance across studies highlights the need for validation. Ongoing research aims to clarify RNF213's pathophysiology and therapeutic potential, positioning its antibody as a vital reagent in vascular and neurological research.

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