| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | MKS1 |
| Uniprot No | Q9NXB0 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-559 aa |
| 活性数据 | MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGGILKSR IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL PATPGSHTLT VSTWRPVELG TVAELRRFFI GGSLELEDLS YVRIPGSFKG ERLSRFGLRT ETTGTVTFRL HCLQQSRAFM ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ EARESLPQDL VSPSGTLVS |
| 分子量 | 64.5 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | 0 |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于重组人MKS1蛋白的虚构参考文献示例(内容为模拟，非真实文献)：
1. **《重组人MKS1蛋白的克隆表达及功能研究》**
作者：Smith A. et al.
摘要：本研究通过原核表达系统成功克隆并纯化了重组人MKS1蛋白，证实其参与Hedgehog信号通路的调控，并发现其与CEP290蛋白互作，为纤毛相关疾病的机制研究提供依据。
2. **《MKS1蛋白的结构解析及其在纤毛组装中的作用》**
作者：Chen L. et al.
摘要：利用X射线晶体学首次解析了人MKS1蛋白的三维结构，揭示了其B9结构域的关键功能区域，并证明其通过结合Tectonic蛋白复合物调控纤毛基体的形成。
3. **《MKS1基因突变对肾囊肿形成的分子机制》**
作者：Johnson R. et al.
摘要：通过构建MKS1敲除细胞模型，发现重组MKS1蛋白的缺失导致纤毛结构异常，并激活Wnt/β-catenin通路，揭示其在多囊肾病发生中的关键作用。
4. **《基于CRISPR/Cas9的MKS1蛋白功能筛选及其临床应用》**
作者：Wang Y. et al.
摘要：利用CRISPR/Cas9技术筛选MKS1突变体，结合重组蛋白回补实验验证其与Meckel综合征的相关性，为基因治疗提供潜在靶点。
注：以上文献名为虚拟创作，实际文献需通过PubMed、Google Scholar等平台检索。
**Background of Recombinant Human MKS1 Protein**
The Meckel syndrome type 1 (MKS1) protein is a ciliary protein crucial for primary cilia formation and function, playing roles in signaling pathways (e.g., Hedgehog), cell cycle regulation, and tissue development. Mutations in the *MKS1* gene are linked to ciliopathies, notably Meckel syndrome (MKS), a severe autosomal recessive disorder characterized by renal cysts, neural tube defects, and polydactyly. MKS1 localizes to the transition zone of cilia, where it interacts with proteins like CEP290 and CC2D2A to regulate ciliogenesis and ciliary membrane composition.
Recombinant human MKS1 protein is produced via expression systems (e.g., *E. coli* or mammalian cells) for research applications. Its structural features include a B9 domain and coiled-coil regions, enabling interactions with other ciliary proteins. Studies using recombinant MKS1 have elucidated its role in centrosomal function, cilia-dependent signaling, and disease mechanisms. It also serves as a tool for investigating molecular pathways in ciliopathies and developing therapeutic strategies.
Deficiencies or dysfunction of MKS1 disrupt ciliary architecture and signaling, contributing to embryonic lethality or multi-organ pathologies. Research on recombinant MKS1 continues to advance understanding of ciliary biology and genetic disorders, with potential implications for diagnostics and targeted therapies.
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