| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | Cep290 |
| Uniprot No | O15078 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-164aa |
| 氨基酸序列 | MAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAEV |
| 分子量 | 45.6 KDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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CEP290蛋白的3篇文献示例，基于领域内常见研究方向概括：
1. **"CEP290 interacts with the centriolar satellite component PCM1 and is required for rhodopsin trafficking"**
- **作者**: Rachel E. Hurd et al.
- **摘要**: 本研究通过重组人CEP290蛋白体外实验，揭示了CEP290与中心粒卫星蛋白PCM1的相互作用，并证明其在感光细胞中视紫红质运输的关键作用，为CEP290缺陷导致的视网膜病变机制提供分子基础。
2. **"Functional analysis of CEP290 mutations in ciliopathy models using recombinant protein expression"**
- **作者**: Ana S. Ramos-Morales et al.
- **摘要**: 通过重组表达CEP290常见突变体(如p.R943Q)，作者在纤毛细胞模型中验证了突变对蛋白定位和纤毛形成的影响，发现突变导致CEP290与BBS4蛋白结合能力丧失，从而破坏纤毛信号传导。
3. **"Structural characterization of the CEP290 N-terminal domain reveals its role in microtubule anchoring"**
- **作者**: James P. Smith et al.
- **摘要**: 利用重组CEP290蛋白的N端结构域进行晶体结构解析，发现该区域通过结合微管蛋白稳定纤毛基底体，为CEP290相关疾病(如LCA)的结构基础提供了新见解。
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**说明**：以上文献为示例，实际研究中建议通过PubMed或Web of Science以关键词“recombinant CEP290”或“CEP290 protein function”检索最新论文。CEP290研究多聚焦于其突变与纤毛病的关联、结构功能及基因治疗策略。
The CEP290 protein, encoded by the *CEP290* gene on chromosome 12. is a centrosomal-ciliary protein critical for cilia formation and function. It localizes to the transition zone of primary cilia, acting as a structural scaffold and regulatory hub for ciliary trafficking. Structurally, CEP290 contains multiple coiled-coil domains, an N-terminal region mediating protein interactions, and a C-terminal segment essential for centrosomal localization. Mutations in *CEP290* are linked to severe ciliopathies, including Leber congenital amaurosis (LCA), Joubert syndrome, and Meckel-Gruber syndrome, often causing retinal degeneration, renal defects, and neurological abnormalities. Notably, the c.2991+1655A>G variant in *CEP290* is a common cause of LCA. Recombinant human CEP290 protein, produced via expression systems like *E. coli* or mammalian cells, enables functional studies, including interactions with ciliary proteins (e.g., RPGR, MKKS) and disease mechanisms. It aids in exploring therapies such as antisense oligonucleotides to correct splicing defects. Research on recombinant CEP290 is pivotal for understanding cilia biology and developing targeted treatments for ciliopathies.
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