| 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 | 1/2000-1/5000 | Human,Mouse,Rat |
| Aliases | KMS; MKS; BBS6; HMCS |
| 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 | Fusion protein of human MKKS |
| Formulation | Purified antibody in PBS with 0.05% sodium azide and 50% glycerol. |
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以下是关于MKKS抗体的3篇参考文献及其摘要内容：
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1. **文献名称**: *MKKS mutations cause Bardet-Biedl syndrome with variable phenotype*
**作者**: Slavotinek AM, et al.
**摘要**: 该研究通过免疫印迹和免疫荧光技术，利用MKKS特异性抗体检测患者细胞中MKKS蛋白的表达及亚细胞定位。发现不同突变导致蛋白截断或稳定性下降，与表型异质性相关。
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2. **文献名称**: *Characterization of MKKS as a ciliary chaperonin-like protein involved in BBS pathogenesis*
**作者**: Kim JC, et al.
**摘要**: 研究通过制备兔源多克隆MKKS抗体，验证其在哺乳动物细胞中的特异性，并揭示MKKS与纤毛基体蛋白的共定位，支持其在纤毛形成中的分子伴侣功能。
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3. **文献名称**: *Antibody-based profiling of MKKS/BBS6 mutations in developmental disorders*
**作者**: Stoetzel C, et al.
**摘要**: 开发针对MKKS蛋白C端结构域的单克隆抗体，用于分析患者组织样本中的蛋白表达缺失，为Bardet-Biedl综合征的分子诊断提供工具。
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注：以上文献为示例性质，实际文献需通过PubMed或Google Scholar以关键词“MKKS antibody”、“BBS6 antibody”等检索确认。部分研究可能侧重基因突变而非抗体技术细节，建议进一步筛选。
MKKS (McKusick-Kaufman syndrome) antibodies are tools used to study the MKKS protein, encoded by the MKKS gene, which plays a role in ciliary function and intracellular trafficking. Initially linked to McKusick-Kaufman syndrome (a rare autosomal recessive disorder characterized by hydrometrocolpos, polydactyly, and congenital heart defects), MKKS was later found to associate with Bardet-Biedl syndrome (BBS), a ciliopathy with overlapping clinical features. The MKKS protein functions as a chaperonin-like component in the BBSome complex, facilitating cargo transport to primary cilia, critical for cellular signaling pathways (e.g., Hedgehog signaling).
MKKS antibodies are primarily used in research to detect protein expression, localization, and interactions via techniques like Western blot, immunohistochemistry, or immunofluorescence. They help elucidate MKKS-related molecular mechanisms in ciliopathies and developmental disorders. Commercially available antibodies are often raised in rabbits or mice, validated for specificity using knockout controls. Dysregulation of MKKS is implicated in ciliary dysfunction, leading to organ developmental defects, obesity, and retinal degeneration. Studying MKKS with specific antibodies advances understanding of ciliopathy pathophysiology and potential therapeutic targets. These reagents are essential for diagnosing MKKS-associated disorders in research settings, though clinical diagnostic use remains limited.
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