| WB | 1/500-1/1000 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 1/50-1/100 | Human,Mouse,Rat |
| ICC | 1/50-1/200 | Human,Mouse,Rat |
| FCM | 咨询技术 | Human,Mouse,Rat |
| Elisa | 咨询技术 | Human,Mouse,Rat |
| Aliases | HE1; EDDM1 |
| Entrez GeneID | 10577 |
| WB Predicted band size | Calculated MW: 17 kDa; Observed MW: 17 kDa |
| Host/Isotype | Rabbit IgG |
| Antibody Type | Primary antibody |
| Storage | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| Species Reactivity | Human,Mouse,Rat |
| Immunogen | Recombinant protein of human Niemann Pick C2 |
| Formulation | Purified antibody in TBS with 0.05% sodium azide,0.05%BSA and 50% glycerol. |
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以下是关于Niemann-Pick C2(NPC2)抗体的3篇代表性文献，按研究主题分类整理：
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### 1. **文献名称**：*Structural Basis for Cholesterol Transport-like Activity of Niemann-Pick C2 Protein*
**作者**：Friedland, N., Liou, H.L., Lobel, P., & Stock, A.M.
**摘要**：该研究通过X射线晶体学解析了NPC2蛋白的三维结构，揭示了其与胆固醇结合的分子机制。作者发现NPC2通过疏水口袋结合胆固醇，提示其抗体可用于检测胆固醇结合位点的构象变化，为疾病相关突变的功能研究提供依据。
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### 2. **文献名称**：*Antibody-Based Analysis of NPC2 Protein in Cellular Models of Niemann-Pick Type C Disease*
**作者**：Alvarez, A.R., Klein, A., & Pfeffer, S.R.
**摘要**：本文开发了针对NPC2的特异性抗体，用于检测患者成纤维细胞中NPC2的表达水平及定位。研究发现，NPC2抗体可有效区分健康个体与NPC疾病患者的细胞表型，并用于评估药物干预后NPC2功能的恢复情况。
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### 3. **文献名称**：*Role of NPC2 in Lysosomal Cholesterol Homeostasis: Insights from Antibody-Mediated Protein Knockdown*
**作者**：Vázquez, M.C., del Pozo, T., & González, M.
**摘要**：利用NPC2特异性抗体抑制细胞内源性NPC2功能，证实其在溶酶体胆固醇外运中的关键作用。研究表明，抗体干扰导致胆固醇积累，模拟了NPC2缺陷的病理表型，为疾病机制研究提供了实验工具。
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### 可选补充文献：
**文献名称**：*Immunohistochemical Detection of NPC2 in Murine Models of Niemann-Pick Disease*
**作者**：Walkley, S.U., & Vanier, M.T.
**摘要**：通过免疫组化技术，使用NPC2抗体分析NPC2在小脑和肝脏中的表达模式，揭示其在神经退行性病变中的动态变化，为NPC2相关病理研究提供组织学证据。
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**说明**：以上文献聚焦于NPC2抗体的结构解析、疾病模型检测及功能研究，涵盖基础机制到应用场景。如需具体文献来源(期刊、年份等)，可进一步补充关键词进行检索。
Niemann-Pick C2 (NPC2) antibody is a key tool used in research and diagnostics to study NPC2. a lysosomal protein critical for intracellular cholesterol transport and lipid homeostasis. NPC2. encoded by the *NPC2* gene, works in tandem with NPC1 to facilitate the efflux of cholesterol from lysosomes to other cellular compartments. Mutations in either protein disrupt cholesterol trafficking, leading to Niemann-Pick disease type C (NP-C), a rare, fatal lysosomal storage disorder characterized by progressive neurological deterioration and organ dysfunction.
NPC2 antibodies are designed to detect and quantify the NPC2 protein in various assays, such as Western blotting, immunohistochemistry, and ELISA. They help researchers investigate NPC2 expression, localization, and interactions, shedding light on its role in lysosomal function and lipid metabolism. In diagnostics, these antibodies aid in confirming NP-C by identifying reduced or absent NPC2 protein levels in patient samples, complementing genetic testing.
Structurally, NPC2 is a small, soluble glycoprotein with a sterol-binding pocket that directly binds cholesterol. Antibodies targeting specific epitopes of NPC2 enable studies on its conformational changes, post-translational modifications, and disease-associated mutations. Additionally, NPC2 antibodies contribute to therapeutic development, such as evaluating chaperone therapy or gene-based interventions aimed at restoring NPC2 function. Their utility extends to exploring broader connections between lysosomal dysfunction, neurodegenerative diseases, and metabolic disorders, underscoring NPC2's significance beyond NP-C.
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