| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | Ush2A |
| Uniprot No | Q2QI47 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 265-517aa |
| 氨基酸序列 | GRMQDFRLYNVSLTNREILEVFSGDFPHLHIQPHCRCPGSHPRVHPSVQQYCIPNGAGDTPEHRMSRLNPEAHPLSFINDDDVATSWISHVFTNITQLYEGVAISIDLENGQYQVLKVITQFSSLQPVAIRIQRKKADSSPWEDWQYFARNCSVWGMKDNEDLENPNSVNCLQLPDFIPFSHGNVTFDLLTSGQKHRPGYNDFYNSSVLQEFMRATQIRLHFHGQYYPAGHTVDWRHQYYAVDEIIVSGRCQC |
| 预测分子量 | 33.3 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USH2A重组蛋白的3篇参考文献示例(注：文献为模拟示例，实际引用请核实来源)：
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1. **标题**: *Expression and Functional Characterization of Recombinant USH2A Isoforms in Retinal Cells*
**作者**: van Wijk E, et al.
**摘要**: 研究成功在大肠杆菌中表达并纯化了USH2A重组蛋白的不同异构体，证实其在视网膜细胞中的定位与纤毛结构形成相关，为USH2A突变导致的Usher综合征病理机制提供分子依据。
2. **标题**: *USH2A Interacts with ADGRV1 via Its Recombinant Fibronectin Domains: Implications for Hearing Loss*
**作者**: Adato A, et al.
**摘要**: 通过重组USH2A蛋白的纤维连接蛋白结构域进行体外结合实验，揭示了USH2A与ADGRV1的相互作用对维持耳蜗毛细胞功能的关键作用，为听力障碍治疗提供新靶点。
3. **标题**: *High-Throughput Screening of Small Molecules Targeting Recombinant USH2A for Usher Syndrome Therapy*
**作者**: Chen L, et al.
**摘要**: 利用重组USH2A蛋白建立药物筛选平台，鉴定出多种可增强USH2A稳定性的化合物，为开发Usher综合征的潜在疗法奠定基础。
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如需真实文献，建议在PubMed或Web of Science中检索关键词“USH2A recombinant protein”或“USH2A expression”。
USH2A is a gene that encodes the protein usherin, a critical component in the development and maintenance of sensory cells in the inner ear and retina. Mutations in USH2A are the most common cause of Usher syndrome type 2 (USH2), a recessive genetic disorder characterized by congenital hearing loss and progressive vision loss due to retinitis pigmentosa. The full-length USH2A protein is a large transmembrane protein (over 5.000 amino acids) with multiple domains, including laminin G, epidermal growth factor (EGF)-like repeats, and fibronectin type III motifs. These domains suggest roles in cell adhesion, extracellular matrix interactions, and structural support for hair cell stereocilia in the cochlea and photoreceptor cells in the retina.
Recombinant USH2A protein is engineered for research and therapeutic applications. It is typically produced using mammalian or insect cell expression systems to ensure proper post-translational modifications and folding. The recombinant protein is purified to study its molecular interactions, structural properties, and functional deficits caused by disease-causing mutations. Researchers use it to model USH2A-related pathologies, screen potential drugs, or develop gene therapies. In gene replacement strategies, recombinant USH2A could theoretically restore functional protein in affected cells. However, challenges persist due to the protein’s large size and complex domain architecture, complicating delivery and stability. Current studies focus on optimizing truncated yet functional USH2A variants to overcome these limitations. Understanding USH2A’s role in cellular adhesion and signaling pathways remains pivotal for advancing therapies for Usher syndrome and related sensory disorders.
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