| WB | 1/500-1/1000 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 咨询技术 | 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 | MKS3; JBTS6; NPHP11; TNEM67; MECKELIN |
| Entrez GeneID | 91147 |
| WB Predicted band size | Calculated MW: 112 kDa; Observed MW: 112 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 |
| Immunogen | A synthetic peptide of human Meckelin |
| Formulation | Purified antibody in TBS with 0.05% sodium azide,0.05%BSA and 50% glycerol. |
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以下是3-4篇与**Meckelin抗体**相关的参考文献摘要(基于公开文献的模拟示例，非真实文献)：
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1. **文献名称**：*Characterization of Meckelin Antibodies in Ciliopathy Research*
**作者**：Smith C, et al.
**摘要**：本研究通过免疫印迹和免疫荧光技术，验证了Meckelin抗体的特异性，发现其可用于检测人类和小鼠组织中的Meckelin蛋白定位。研究证实Meckelin在纤毛基体的表达异常与Joubert综合征相关，为纤毛病机制提供了新证据。
2. **文献名称**：*Role of Meckelin in Renal Ciliopathies: Insights from Antibody-Based Assays*
**作者**：Johnson R, Patel K.
**摘要**：利用Meckelin抗体分析肾脏组织样本，发现Meckelin缺失会导致纤毛结构缺陷和细胞极性紊乱，提示其在多囊肾病中的作用。抗体检测为临床诊断Meckel-Gruber综合征提供了潜在工具。
3. **文献名称**：*Development of a Monoclonal Antibody Targeting Meckelin for Diagnostic Applications*
**作者**：Lee S, et al.
**摘要**：报道一种新型单克隆抗体的开发，该抗体可特异性识别Meckelin的C端结构域。实验表明其适用于石蜡包埋组织的免疫组化检测，显著提高了纤毛病患者的病理诊断灵敏度。
4. **文献名称**：*Meckelin Antibody Reveals Tissue-Specific Isoform Expression in Zebrafish Models*
**作者**：Gomez M, et al.
**摘要**：通过Meckelin抗体在斑马鱼模型中的染色分析，发现Meckelin存在组织特异性异构体，并揭示了其在胚胎发育过程中对神经管闭合和纤毛形成的关键调控作用。
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注：以上文献为示例性质，实际研究需通过PubMed、Google Scholar等平台检索具体论文(关键词：Meckelin antibody、TMEM67、ciliopathy)。
Meckelin antibodies target the protein meckelin, encoded by the *MKS3* (also known as *TMEM67*) gene, which is associated with Meckel syndrome (MKS), a rare autosomal recessive ciliopathy. Meckel syndrome is characterized by severe developmental defects, including renal cystic dysplasia, central nervous system malformations (e.g., occipital encephalocele), and polydactyly. Meckelin, a transmembrane protein localized to primary cilia and centrosomes, plays a critical role in ciliary function, cell signaling, and embryonic tissue patterning. Defects in meckelin disrupt cilia-mediated signaling pathways (e.g., Wnt, Hedgehog), contributing to the multisystem abnormalities observed in MKS.
Meckelin antibodies are essential tools in research to study ciliopathies, enabling the detection and localization of meckelin in cellular and tissue models. They are used in immunohistochemistry, Western blotting, and immunofluorescence to investigate protein expression, ciliary structure, and molecular mechanisms underlying MKS and related disorders like Joubert syndrome. Additionally, these antibodies aid in genetic diagnostics and functional studies to correlate *MKS3* mutations with clinical phenotypes. Their development has advanced understanding of ciliary biology and potential therapeutic strategies for ciliopathies. Research using meckelin antibodies continues to elucidate the protein's role in development and disease, offering insights into targeted interventions.
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