| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | DYSF |
| Uniprot No | O75923 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 全长 |
| 氨基酸序列 | full |
| 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. |
以下是关于DYSF(Dysferlin)重组蛋白的示例性参考文献，涵盖不同研究方向：
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1. **文献名称**：*Heterologous Expression of Recombinant Dysferlin in HEK293 Cells and Its Role in Membrane Repair*
**作者**：Smith J, et al.
**摘要**：本研究在HEK293细胞中成功表达功能性重组DYSF蛋白，证实其能恢复Dysferlin缺陷细胞的膜修复能力，为体外功能研究提供工具。
2. **文献名称**：*AAV-Mediated Delivery of Recombinant DYSF Ameliorates Muscular Dystrophy in Murine Models*
**作者**：Gao L, et al.
**摘要**：通过腺相关病毒(AAV)递送重组DYSF蛋白至Dysferlinopathy小鼠模型，显著改善肌肉病理表型并增强运动功能，支持基因替代疗法的潜力。
3. **文献名称**：*Optimization of Recombinant Dysferlin Fragment Production in E. coli for Antibody Development*
**作者**：Chen R, et al.
**摘要**：在大肠杆菌中高效表达并纯化DYSF蛋白的特定结构域，用于制备高亲和力抗体，推动临床诊断试剂的开发。
4. **文献名称**：*Recombinant Dysferlin Modulates Autophagy in Myocytes via Interaction with LC3*
**作者**：Park S, et al.
**摘要**：揭示重组DYSF蛋白通过与自噬标记蛋白LC3结合，调控肌肉细胞自噬水平，为理解Dysferlinopathy的分子机制提供新视角。
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**注**：上述文献为示例性虚构内容，实际研究中请通过学术数据库(如PubMed、Web of Science)检索真实文献。
Dysferlin (DYSF) is a large transmembrane protein primarily expressed in skeletal muscle and the heart, playing a critical role in sarcolemma repair, vesicle trafficking, and membrane fusion processes. It contains multiple C2 domains that mediate calcium-dependent lipid binding, enabling its function in resealing muscle membranes after injury. Mutations in the DYSF gene are linked to autosomal recessive muscular dystrophies, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy, characterized by progressive muscle weakness, inflammation, and impaired regeneration.
Traditional studies of dysferlinopathies face challenges due to the protein’s size (~230 kDa) and complexity, complicating native protein purification. Recombinant DYSF technology addresses this by enabling controlled in vitro production of dysferlin or its functional domains using expression systems like mammalian cells or bacteria. This approach allows researchers to study structure-function relationships, develop disease models, and explore therapeutic strategies. Recombinant DYSF proteins are instrumental in elucidating molecular mechanisms of membrane repair, screening potential drugs to enhance dysferlin activity, and advancing gene/protein replacement therapies. For instance, engineered mini-dysferlin constructs have shown promise in preclinical studies for restoring membrane repair in DYSF-deficient models.
Despite progress, challenges persist in ensuring protein stability, delivery efficiency, and immunogenicity in clinical applications. Ongoing research focuses on optimizing recombinant DYSF variants and delivery vectors (e.g., AAVs) to translate these findings into viable treatments for dysferlinopathies, which currently lack curative therapies.
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