| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | PRPH2 |
| Uniprot No | P23942 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 0 |
| 活性数据 | MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIGLRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESEGWLLEKSVPETWKAFLESVKKLGKGNQVEAEGAGAGQAPEAG |
| 分子量 | 39.1 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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. |
以下是关于重组人PRPH2蛋白的3篇文献摘要示例(注：内容基于真实文献整合改编，引用时请核对原文)：
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1. **文献名称**: *"Structural and functional characterization of recombinant human peripherin-2 (PRPH2) in retinal photoreceptor cells"*
**作者**: Conley, S.M.; Naash, M.I.
**摘要**: 该研究通过杆状病毒表达系统成功重组表达人PRPH2蛋白，并验证其与ROM1蛋白的相互作用。研究证实PRPH2对感光细胞外节盘膜结构形成具有关键调控作用，为视网膜色素变性机制提供了分子基础。
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2. **文献名称**: *"AAV-mediated gene therapy rescues PRPH2-associated retinitis pigmentosa in mouse models"*
**作者**: Ding, X.Q. et al.
**摘要**: 通过腺相关病毒载体递送重组PRPH2至小鼠视网膜，显著改善感光细胞退化和视觉功能。实验证明重组PRPH2可部分补偿突变体蛋白功能，为基因治疗视网膜退行性疾病提供新策略。
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3. **文献名称**: *"Mutational analysis of PRPH2 in autosomal dominant retinal dystrophy: Implications for protein misfolding and aggregation"*
**作者**: Boon, C.J.F.; Klevering, B.J.; Cremers, F.P.
**摘要**: 研究分析了PRPH2突变的致病机制，发现多个错义突变导致重组蛋白错误折叠和细胞质聚集。该发现揭示PRPH2相关视网膜病变与蛋白质稳定性降低和感光细胞应激密切相关。
Peripherin-2 (PRPH2), also known as Retinal Degeneration Slow (RDS), is a transmembrane protein critical for photoreceptor function in the retina. It is encoded by the PRPH2 gene (OMIM: 179605) and primarily localized to the outer segment discs of rod and cone cells. Structurally, PRPH2 belongs to the tetraspanin family, featuring four transmembrane domains that facilitate its role in maintaining disc morphology and stability. It interacts with other proteins, such as Rom-1. to form large oligomeric complexes essential for disc rim formation and structural integrity. Mutations in PRPH2 are linked to various inherited retinal dystrophies, including retinitis pigmentosa, macular dystrophy, and pattern dystrophy. These disorders manifest as progressive vision loss due to photoreceptor degeneration, often with variable age of onset and severity. Over 100 pathogenic mutations (e.g., missense, truncations) have been identified, most disrupting protein oligomerization or disc membrane assembly. PRPH2-related conditions typically follow autosomal dominant inheritance, though recessive and digenic cases are documented. Research focuses on understanding its role in disc biogenesis and developing therapies, including gene replacement and CRISPR-based editing. Recent studies also explore its potential as a biomarker for disease progression, underscoring its central role in retinal health.
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