| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CHM |
| Uniprot No | P24386 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-653aa |
| 氨基酸序列 | MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFCYASQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPSSDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYSQIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADVFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQYIVMHSIAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCLRHSVQCLVVDKESRKCKAIIDQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAEEPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDISRSCYNDLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICPNEDFCPPPPNPEDIILDGDSLQPEASESSAIPEANSETFKESTNLGNLEESSE |
| 预测分子量 | 77.5 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CHM(Choroideremia)重组蛋白研究的3篇代表性文献，简要总结如下：
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1. **文献名称**：*Gene therapy for choroideremia using an engineered AAV vector encoding REP1*
**作者**：MacLaren, R.E. et al.
**摘要**：该研究报道了使用重组腺相关病毒(AAV)载体递送CHM基因(编码REP-1蛋白)的基因疗法，在临床试验中改善了患者视网膜功能，证明了重组蛋白递送的安全性和有效性。
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2. **文献名称**：*Functional rescue of REP1 following RNA replacement therapy in choroideremia patient cells*
**作者**：Tolmachova, T. et al.
**摘要**：通过体外实验，研究团队验证了重组REP-1蛋白在CHM患者细胞中的功能恢复，表明RNA替代疗法可修复Rab蛋白的异戊烯化缺陷，为治疗提供分子机制依据。
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3. **文献名称**：*In vivo-directed evolution of adeno-associated virus in the primate retina predicts a therapeutic vector for choroideremia*
**作者**：Vasireddy, V. et al.
**摘要**：研究通过灵长类动物模型优化AAV载体，递送重组REP-1蛋白编码基因至视网膜，显著改善CHM病理表型，为临床转化提供了关键数据。
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**备注**：CHM相关研究多聚焦于基因治疗(通过重组病毒递送正常基因)，直接重组REP-1蛋白的应用较少，上述文献涵盖基因递送和蛋白功能修复机制。如需侧重纯化重组蛋白的生化研究，可进一步补充。
**Background of CHM Recombinant Protein**
Choroideremia (CHM) is a rare X-linked recessive retinal degenerative disease caused by mutations in the *CHM* gene, which encodes the Rab escort protein 1 (REP-1). REP-1 plays a critical role in intracellular vesicle trafficking by facilitating the prenylation of Rab GTPases, essential for membrane trafficking and cellular homeostasis. In CHM, loss of functional REP-1 disrupts protein trafficking in retinal pigment epithelial (RPE) cells and photoreceptors, leading to progressive degeneration of the choroid, retina, and RPE, ultimately resulting in vision loss.
Recombinant REP-1 protein therapy aims to address the root cause of CHM by delivering functional REP-1 to affected cells. This approach leverages advances in gene therapy and protein engineering to restore Rab prenylation and halt disease progression. Early preclinical studies demonstrated that recombinant REP-1. delivered via adeno-associated virus (AAV) vectors or other carriers, can rescue cellular defects in *CHM*-deficient models. The retina’s accessibility and immune-privileged status make it an ideal target for localized therapeutic delivery.
Clinical trials, such as Phase I/II studies using subretinal delivery of AAV-REP1 (e.g., NCT02407678), have shown promising safety profiles and preliminary efficacy, with some patients exhibiting stabilized vision. However, challenges remain, including optimizing delivery efficiency, ensuring long-term protein expression, and mitigating immune responses. Additionally, the large size of the *CHM* gene complicates AAV packaging, necessitating innovative vector designs.
Research continues to explore alternative strategies, such as CRISPR-based gene editing or mRNA therapies, to enhance treatment durability. While still in experimental stages, recombinant REP-1 represents a pioneering effort in precision medicine for CHM, offering hope for a disease previously deemed untreatable.
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