| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | OCRL |
| Uniprot No | Q01968 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-893 aa |
| 活性数据 | MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWLGDLNYRLGMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED |
| 分子量 | 129.6 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 0 |
| 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OCRL(Oculocerebrorenal syndrome of Lowe)蛋白的参考文献示例(注：以下内容为示例性概括，实际文献需查询数据库确认)：
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1. **文献名称**: "Structural insights into the phosphatase activity of human OCRL1"
**作者**: Choudhury R, et al.
**摘要**: 解析了人源重组OCRL蛋白的晶体结构，揭示了其磷酸酶结构域与底物结合机制，并探讨了Lowe综合征相关突变对其催化活性的影响。
2. **文献名称**: "Enzymatic characterization of recombinant OCRL1 in cellular inositol phosphate metabolism"
**作者**: Zhang X, et al.
**摘要**: 通过表达重组OCRL蛋白，分析其特异性水解磷脂酰肌醇底物的酶动力学参数，发现某些致病突变会导致酶活性显著降低，与临床严重程度相关。
3. **文献名称**: "Functional rescue of OCRL-deficient cells by recombinant protein delivery"
**作者**: Vicinanza M, et al.
**摘要**: 在OCRL缺陷的细胞模型中，重组表达的OCRL蛋白成功恢复了细胞内磷脂代谢失衡和肌动蛋白细胞骨架异常，为基因治疗提供了实验依据。
4. **文献名称**: "High-throughput screening for OCRL-targeted small molecule modulators using recombinant protein"
**作者**: Lane JD, et al.
**摘要**: 基于重组OCRL蛋白建立了体外药物筛选平台，筛选出可增强其磷酸酶活性的化合物，为Lowe综合征的潜在治疗提供候选分子。
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建议通过 **PubMed** 或 **Google Scholar** 搜索上述关键词获取完整文献。如需具体年份或期刊，请提供更多信息。
Oculocerebrorenal syndrome of Lowe (OCRL) protein, encoded by the OCRL1 gene on the X chromosome, is a phosphatidylinositol 5-phosphatase crucial for intracellular membrane trafficking and phosphoinositide metabolism. It hydrolyzes phosphatidylinositol 4.5-bisphosphate [PI(4.5)P2] to phosphatidylinositol 4-phosphate, regulating actin cytoskeleton dynamics, endosomal sorting, and cilia function. Mutations in OCRL1 cause two X-linked disorders: Lowe syndrome (oculocerebrorenal syndrome), characterized by congenital cataracts, renal Fanconi syndrome, and intellectual disability, and Dent-2 disease, a milder renal phenotype.
Recombinant human OCRL protein is engineered in vitro using expression systems like E. coli or mammalian cells, enabling functional studies of disease-associated mutations. It serves as a tool to investigate molecular mechanisms underlying membrane trafficking defects, autophagy, and receptor signaling disruptions in Lowe syndrome. Researchers also utilize recombinant OCRL to screen small molecules for restoring enzymatic activity in mutant variants, offering potential therapeutic avenues. Structural studies of recombinant OCRL domains (e.g., PH domain, catalytic 5-phosphatase domain) have clarified its interaction with Rab GTPases and clathrin-coated vesicles. Current applications extend to developing gene therapies or enzyme replacement strategies targeting renal and neurological symptoms. Its role in balancing phosphoinositide levels makes it relevant for broader research in cancer, metabolic disorders, and neurodegenerative diseases linked to lipid signaling dysregulation.
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