| WB | 咨询技术 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | IHC:1/100-1/200;IHF:1/50-1/200 | Human,Mouse,Rat |
| ICC | 1/50-1/200 | Human,Mouse,Rat |
| FCM | 1/20-1/100 | Human,Mouse,Rat |
| Elisa | 咨询技术 | Human,Mouse,Rat |
| Aliases | JBTS6; MKS3; NPHP11; TMEM67; TNEM67;;Meckelin |
| WB Predicted band size | 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,Mouse,Rat |
| Immunogen | A synthesized peptide derived from human Meckelin |
| Formulation | Purified antibody in PBS with 0.05% sodium azide,0.05% BSA and 50% glycerol. |
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以下是关于Meckelin抗体的模拟参考文献示例(仅供参考，实际文献请通过学术数据库查询)：
1. **文献名称**：*Meckelin (TMEM67) mutations and antibody localization in ciliopathies*
**作者**：Smith JD, et al.
**摘要**：本研究利用新型Meckelin抗体，通过免疫荧光技术揭示了TMEM67基因突变患者中Meckelin蛋白在纤毛基部的表达缺失，为Meckel-Gruber综合征的诊断提供了分子依据。
2. **文献名称**：*Development of a polyclonal antibody against human Meckelin for functional studies*
**作者**：Otto EA, et al.
**摘要**：报道了一种特异性识别Meckelin蛋白C端结构域的多克隆抗体的开发，并通过Western blot和免疫组化验证其在肾脏和神经组织中的定位，支持其在纤毛功能障碍研究中的应用。
3. **文献名称**：*TMEM67 mutations disrupt Meckelin interaction with ciliary proteins*
**作者**：Brancati F, et al.
**摘要**：通过免疫共沉淀结合Meckelin抗体，发现致病突变导致Meckelin与Nephrocystin-1的相互作用受损，阐明了其在纤毛信号传导中的分子机制。
4. **文献名称**：*Antibody-based screening for Meckelin variants in Joubert syndrome*
**作者**：Dawe HR, et al.
**摘要**：建立基于Meckelin抗体的高通量筛查方法，鉴定出多种与Joubert综合征相关的TMEM67错义突变，并证实突变导致蛋白稳定性下降。
**注**：以上为模拟示例，实际文献需通过PubMed、Google Scholar等平台检索关键词(如“Meckelin antibody”“TMEM67”)获取。
Meckelin antibodies target the Meckelin protein (encoded by the *TMEM67* gene), a transmembrane glycoprotein critical for primary cilia function and cellular signaling pathways. Meckelin is localized to the transition zone of primary cilia, structures essential for sensing extracellular signals and regulating developmental processes. Mutations in *TMEM67* are linked to ciliopathies, notably Joubert syndrome (JBTS), Meckel-Gruber syndrome (MKS), and nephronophthisis, characterized by neurological, renal, and hepatic abnormalities. These disorders stem from disrupted ciliary structure or signaling, leading to impaired organogenesis and tissue homeostasis.
Meckelin antibodies are valuable tools in research to study cilia-related pathologies. They enable the visualization and quantification of Meckelin expression in tissues or cell cultures via techniques like immunohistochemistry, Western blotting, and immunofluorescence. Such studies help elucidate Meckelin's role in ciliogenesis, cell polarity, and Hedgehog signaling. Additionally, these antibodies aid in diagnosing ciliopathies by identifying protein expression anomalies in patient samples. Recent advances in CRISPR and organoid models have further highlighted Meckelin's interactions with other ciliary proteins, driving therapeutic exploration for ciliopathies. Overall, Meckelin antibodies bridge molecular insights with clinical applications, enhancing understanding of ciliary biology and disease mechanisms.
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