| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | RAPSN |
| Uniprot No | Q13702 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 2-412aa |
| 氨基酸序列 | GQDQTKQQI EKGLQLYQSN QTEKALQVWT KVLEKSSDLM GRFRVLGCLV TAHSEMGRYK EMLKFAVVQI DTARELEDAD FLLESYLNLA RSNEKLCEFH KTISYCKTCL GLPGTRAGAQ LGGQVSLSMG NAFLGLSVFQ KALESFEKAL RYAHNNDDAM LECRVCCSLG SFYAQVKDYE KALFFPCKAA ELVNNYGKGW SLKYRAMSQY HMAVAYRLLG RLGSAMECCE ESMKIALQHG DRPLQALCLL CFADIHRSRG DLETAFPRYD SAMSIMTEIG NRLGQVQALL GVAKCWVARK ALDKALDAIE RAQDLAEEVG NKLSQLKLHC LSESIYRSKG LQRELRAHVV RFHECVEETE LYCGLCGESI GEKNSRLQAL PCSHIFHLRC LQNNGTRSCP NCRRSSMKPG FV |
| 预测分子量 | 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3篇关于RAPSN重组蛋白的参考文献及其摘要概括：
1. **标题**: "Expression and Purification of Recombinant Rapsyn for Structural Studies"
**作者**: Smith J, et al.
**摘要**: 研究报道了利用大肠杆菌表达系统成功表达并纯化重组RAPSN蛋白，通过X射线晶体学解析其N端结构域的三维结构，揭示了其与乙酰胆碱受体β亚基相互作用的关键氨基酸位点。
2. **标题**: "Functional Characterization of Rapsyn in Neuromuscular Junction Formation"
**作者**: Lee S, Wang T.
**摘要**: 通过体外重组RAPSN蛋白实验，证明其能够诱导乙酰胆碱受体在细胞膜上的簇集，并发现其C端结构域对突触后膜骨架蛋白的招募具有重要作用，为先天性肌无力综合征的机制研究提供依据。
3. **标题**: "Recombinant RAPSN-Based ELISA for Autoantibody Detection in Myasthenia Gravis"
**作者**: Chen L, et al.
**摘要**: 开发了一种基于重组RAPSN蛋白的ELISA检测方法，用于重症肌无力患者血清中自身抗体的筛查，验证了该方法的高灵敏度和特异性，具有临床诊断应用潜力。
(注：上述文献为示例，实际引用需根据具体研究检索PubMed/Google Scholar获取真实文献)
Rapsyn, a 43-kDa peripheral membrane protein encoded by the *RAPSN* gene, plays a critical role in clustering and stabilizing nicotinic acetylcholine receptors (AChRs) at the neuromuscular junction (NMJ). It is essential for synaptic transmission, ensuring proper muscle contraction by organizing AChRs into high-density clusters beneath motor nerve terminals. Rapsyn interacts directly with AChRs via its N-terminal coiled-coil domains and tetratricopeptide repeats (TPRs), while its C-terminal RING-H2 domain mediates interactions with downstream signaling molecules like dystroglycan and cytoskeletal proteins.
Recombinant rapsyn protein is typically produced using expression systems such as *E. coli* or mammalian cells, enabling studies on its structure-function relationships. Its recombinant form retains the ability to self-associate and bind AChRs, making it invaluable for *in vitro* assays, structural studies, and drug screening. Mutations in *RAPSN* are linked to congenital myasthenic syndromes (CMS), characterized by muscle weakness and fatigability. Recombinant rapsyn aids in elucidating pathogenic mechanisms, testing therapeutic interventions (e.g., chaperone drugs), and developing diagnostic tools for CMS.
Research also explores rapsyn's role beyond the NMJ, including potential functions in cancer and immune regulation. However, post-translational modifications (e.g., phosphorylation, palmitoylation) critical for its activity may require mammalian expression systems to ensure functional fidelity. Overall, recombinant rapsyn serves as a key tool for advancing neuromuscular biology and precision medicine.
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