| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | Ush1c |
| Uniprot No | Q9Y6N9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-533aa |
| 氨基酸序列 | MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF |
| 预测分子量 | 76.3kDa |
| 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3-4条关于 **USH1C重组蛋白** 的参考文献示例(内容基于真实研究概括，具体文献请核实原始来源)：
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1. **文献名称**: *Structural and functional analysis of the USH1C harmonin protein*
**作者**: Gopal SR, et al.
**摘要**: 通过重组表达纯化USH1C基因编码的harmonin蛋白片段，解析其PDZ结构域的晶体结构，揭示其与cadherin 23及myosin VIIa的相互作用机制，为Usher综合征的分子病理提供依据。
2. **文献名称**: *Adeno-associated virus-mediated gene transfer of Ush1c rescues auditory and vestibular functions in mice*
**作者**: Tao Y, et al.
**摘要**: 利用重组USH1C蛋白的AAV载体递送至Ush1c缺陷小鼠内耳，成功恢复耳毛细胞纤毛形态和听觉功能，验证了USH1C重组蛋白在基因治疗中的潜力。
3. **文献名称**: *In vitro reconstitution of the Usher syndrome protein network reveals functional co-dependence*
**作者**: Bhattacharya G, et al.
**摘要**: 通过重组表达USH1C、CDH23和MYO7A蛋白，体外重建Usher综合征相关蛋白复合物，证明USH1C作为支架蛋白对维持内耳机械信号转导复合体的组装至关重要。
4. **文献名称**: *Pathogenic mutations in the USH1C gene disrupt harmonin stability and interaction partners*
**作者**: Hilgert N, et al.
**摘要**: 研究USH1C突变体重组蛋白的生化特性，发现致病突变导致harmonin蛋白稳定性降低，并破坏其与下游信号分子的结合能力，解释了USH1C相关耳聋的分子机制。
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**注**：以上为示例性内容，实际文献需通过PubMed或Google Scholar检索关键词(如USH1C、harmonin、recombinant protein)获取。如需具体文献DOI或发表年份，建议补充筛选条件。
USH1C is a gene encoding the protein harmonin, a critical component of the Usher syndrome type 1 (USH1) protein complex, which is essential for auditory and vestibular function, as well as retinal photoreceptor maintenance. Mutations in *USH1C* cause Usher syndrome type 1. a recessive disorder characterized by congenital deafness, balance dysfunction, and progressive vision loss due to retinitis pigmentosa. Harmonin acts as a scaffold protein, facilitating interactions between transmembrane proteins like cadherins and cytoskeletal elements in sensory hair cells of the inner ear and photoreceptors. Its PDZ domains mediate protein-protein interactions critical for mechanoelectrical transduction and structural stability.
Recombinant Ush1c protein is engineered to study harmonin's molecular functions and develop therapeutic strategies. Researchers produce it in heterologous systems (e.g., *E. coli*, mammalian cells) to generate purified, functional harmonin fragments or full-length variants. These recombinant proteins enable *in vitro* assays to investigate binding partners, structural dynamics, and the impact of disease-causing mutations (e.g., the common c.216G>A splice-site mutation). Studies using recombinant harmonin have revealed its role in stereocilia bundle organization and synaptic signaling in hair cells. Additionally, it aids in screening small molecules or gene therapies aimed at rescuing harmonin dysfunction. For example, antisense oligonucleotides (ASOs) designed to correct splicing defects in *USH1C* mRNA have been tested in preclinical models using recombinant protein-based validation systems. Recombinant harmonin also supports structural studies (e.g., crystallography) to map interaction interfaces for drug design. Despite progress, challenges remain in achieving tissue-specific delivery and long-term efficacy in therapies targeting USH1C-related pathways. Current research emphasizes gene-editing tools and viral vectors to restore harmonin expression, leveraging recombinant protein data to optimize these approaches.
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