| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | RPGR |
| Uniprot No | Q92834 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 54-367aa |
| 氨基酸序列 | NKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAP |
| 预测分子量 | 62.8 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RPGR(Retinitis Pigmentosa GTPase Regulator)重组蛋白的3篇代表性文献及其摘要概述：
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1. **文献名称**: *"RPGR protein complex regulates photoreceptor outer segment disc morphogenesis"*
**作者**: Patil H, et al.
**摘要**: 本研究通过重组RPGR蛋白及其互作蛋白RPGRIP1.揭示了RPGR在光感受器外节盘膜形态发生中的关键作用。实验表明，重组RPGR蛋白与RPGRIP1的结合异常会导致纤毛运输功能障碍，进而引发视网膜色素变性(RP)等疾病。
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2. **文献名称**: *"Functional characterization of retinitis pigmentosa-associated mutations in the RPGR gene"*
**作者**: Hong DH, et al.
**摘要**: 作者通过体外表达重组RPGR蛋白，分析了多个RPGR基因突变体的功能。研究发现，突变导致RPGR与下游效应蛋白的结合能力显著降低，破坏了光感受器细胞中蛋白质运输的稳定性，为基因治疗提供了靶点。
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3. **文献名称**: *"Adeno-associated virus-mediated gene therapy rescues retinal degeneration in RPGR-deficient models"*
**作者**: Beltran WA, et al.
**摘要**: 该研究利用重组AAV载体递送功能性RPGR基因至RPGR缺陷的小鼠模型，成功恢复了光感受器细胞的结构和功能。实验证实，重组RPGR蛋白的表达显著延缓了视网膜退行性病变的进程。
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**备注**：以上文献为领域内经典或近年研究，实际引用时建议通过PubMed或Google Scholar核对具体信息(DOI/期刊卷号)。如需扩展，可搜索关键词“RPGR recombinant purification”、“RPGR gene therapy clinical trial”。
Retinitis pigmentosa GTPase regulator (RPGR) is a protein encoded by the *RPGR* gene, primarily expressed in retinal photoreceptor cells. It plays a critical role in maintaining ciliary structure and protein trafficking within photoreceptors, essential for visual signal transduction. Mutations in *RPGR* account for over 70% of X-linked retinitis pigmentosa (XLRP) cases and are linked to other retinal degenerations, such as cone-rod dystrophy. RPGR exists in multiple splice variants, with the exon ORF15 isoform being predominant in the retina. This isoform contains a purine-rich repetitive domain critical for interacting with proteins like RPGRIP1. which stabilizes RPGR at the photoreceptor cilium.
Recombinant RPGR proteins are engineered to study its molecular interactions, disease mechanisms, and therapeutic strategies. Due to the repetitive nature and high GC content of the *RPGR* ORF15 region, producing stable recombinant RPGR in vitro is challenging. Researchers often employ heterologous expression systems (e.g., bacterial, mammalian) to generate truncated or tagged versions for functional assays. These recombinant proteins help elucidate RPGR’s role in ciliary transport, its binding partners, and how mutations disrupt cellular homeostasis.
Therapeutically, recombinant RPGR is explored in gene therapy trials, where adeno-associated virus (AAV) vectors deliver functional *RPGR* cDNA to rescue photoreceptor degeneration. However, variability in mutation-specific responses underscores the need for personalized approaches. Recombinant RPGR also aids in developing biomarkers and high-throughput drug screens to identify molecules that stabilize mutant RPGR or enhance residual function. Understanding RPGR’s biology through recombinant tools remains pivotal for advancing treatments for inherited retinal diseases.
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