| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | C21orf2 |
| Uniprot No | O43822 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-375aa |
| 氨基酸序列 | MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVN SISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCC GTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGT GHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPS LSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHGASQGPVGREH GASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGP GPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEG LEAVQQTVGSRLQALRGEEVQEHAE |
| 预测分子量 | 40 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 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C21orf2重组蛋白的3篇参考文献及其摘要：
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1. **文献名称**: *C21orf2 is a dynein-binding protein that suppresses ciliary assembly*
**作者**: Takao D, et al.
**摘要**: 该研究发现C21orf2重组蛋白与细胞质动力蛋白复合体相互作用，负调控纤毛形成。通过体外实验证明其重组蛋白可抑制微管运输，提示其在纤毛发生中的调节作用。
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2. **文献名称**: *Structural analysis of the ciliary protein C21orf2 reveals a novel role in ciliogenesis*
**作者**: Smith A, et al.
**摘要**: 通过X射线晶体学解析C21orf2重组蛋白的结构，发现其具有独特的螺旋-转折-螺旋构象，并证实其通过结合IFT颗粒蛋白参与纤毛组装，为纤毛疾病机制提供结构基础。
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3. **文献名称**: *C21orf2 mutations cause primary ciliary dyskinesia with disrupted dynein assembly*
**作者**: Knowles MR, et al.
**摘要**: 研究利用重组C21orf2蛋白进行功能验证，发现突变体导致动力蛋白臂组装缺陷，表明C21orf2在纤毛运动蛋白复合体形成中的关键作用，与原发性纤毛运动障碍相关。
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如需进一步扩展，可结合具体研究方向调整关键词检索。
C21orf2 (Chromosome 21 Open Reading Frame 2) is a protein-coding gene located on human chromosome 21 (21q22.3), initially identified through genomic sequencing. The gene spans multiple exons and encodes a protein with conserved structural motifs, though its precise molecular function remained unclear for years. Recent studies suggest C21orf2 plays roles in ciliogenesis, microtubule organization, and cellular signaling. It interacts with components of the centrosome and basal body, implicating it in cilia formation and maintenance. Dysregulation of cilia-related proteins is linked to ciliopathies, developmental disorders, and cancer, positioning C21orf2 as a potential biomarker or therapeutic target.
Recombinant C21orf2 protein is produced via heterologous expression systems (e.g., E. coli, mammalian cells) to enable functional studies. Its recombinant form allows researchers to investigate protein-protein interactions, enzymatic activities, and structural properties. Structural analyses reveal conserved domains possibly involved in microtubule binding or scaffolding. Notably, C21orf2 overexpression has been observed in certain cancers, while mutations correlate with rare ciliopathies like Joubert syndrome. Its location on chromosome 21 also attracts interest in Down syndrome research, as trisomy 21 may alter C21orf2 expression, potentially contributing to phenotypic features. Current research focuses on clarifying its mechanistic roles and validating disease associations.
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