| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | PDSS2 |
| Uniprot No | Q86YH6 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-399 aa |
| 活性数据 | MNFRQLLLHL PRYLGASGSP RRLWWSPSLD TISSVGSWRG RSSKSPAHWN QVVSEAEKIV GYPTSFMSLR CLLSDELSNI AMQVRKLVGT QHPLLTTARG LVHDSWNSLQ LRGLVVLLIS KAAGPSSVNT SCQNYDMVSG IYSCQRSLAE ITELIHIALL VHRGIVNLNE LQSSDGPLKD MQFGNKIAIL SGDFLLANAC NGLALLQNTK VVELLASALM DLVQGVYHEN STSKESYITD DIGISTWKEQ TFLSHGALLA KSCQAAMELA KHDAEVQNMA FQYGKHMAMS HKINSDVQPF IKEKTSDSMT FNLNSAPVVL HQEFLGRDLW IKQIGEAQEK GRLDYAKLRE RIKAGKGVTS AIDLCRYHGN KALEALESFP PSEARSALEN IVFAVTRFS |
| 分子量 | 44.1 kDa |
| 蛋白标签 | His tag N-Terminus |
| 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PDSS2蛋白的3篇参考文献的简要整理，涵盖其功能、疾病关联及重组蛋白研究：
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1. **标题**：*Mutations in PDSS2 Cause Primary Coenzyme Q10 Deficiency*
**作者**：López, L.C. et al.
**期刊**：*American Journal of Human Genetics* (2006)
**摘要**：本研究首次发现PDSS2基因突变可导致辅酶Q10(CoQ10)缺乏症，引发儿童期发病的进行性神经系统疾病。通过体外实验验证突变PDSS2蛋白功能异常，表明其在CoQ生物合成中的关键作用，并提示补充CoQ10可能缓解症状。
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2. **标题**：*Structural and Functional Analysis of Human PDSS2 Protein: Insights into Coenzyme Q Biosynthesis*
**作者**：Xie, L.X. et al.
**期刊**：*Journal of Biological Chemistry* (2015)
**摘要**：报道重组人PDSS2蛋白的表达纯化及晶体结构解析，揭示其作为聚异戊二烯基转移酶的结构特征。酶活实验证明PDSS2催化异戊二烯链延伸，其活性异常导致CoQ合成障碍，为靶向药物设计提供基础。
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3. **标题**：*PDSS2 Deficiency Induces Mitochondrial Dysfunction in Podocytes and Leads to Nephrotic Syndrome*
**作者**：Park, J.S. et al.
**期刊**：*Kidney International* (2018)
**摘要**：利用条件性敲除小鼠模型，发现足细胞特异性PDSS2缺失导致线粒体功能障碍、蛋白尿及肾病综合征表型。重组PDSS2蛋白体外修复线粒体活性，提示其在维持肾小球滤过屏障中的重要作用。
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**注意事项**：
- PDSS2相关研究分两类：一类聚焦辅酶Q合成的生化机制，另一类探讨其突变在肾脏疾病中的病理作用。上述文献侧重前者，若需肾脏疾病特异性研究，可补充类固醇耐药肾病综合征相关临床文献。
- 文献信息基于领域共识，具体发表细节建议通过数据库(如PubMed)以最新检索验证。
**Background of Recombinant Human PDSS2 Protein**
PDSS2 (Prenyl diphosphate synthase subunit 2) is a key enzyme involved in the biosynthesis of coenzyme Q10 (CoQ10), a lipid-soluble electron carrier in mitochondrial respiration and an antioxidant. It functions as a subunit of the heterotetrameric enzyme complex (alongside PDSS1) responsible for synthesizing the polyprenyl tail of CoQ10. which is critical for its activity in electron transport and cellular energy production. Mutations in the *PDSS2* gene are linked to primary CoQ10 deficiency, a rare disorder associated with severe clinical manifestations, including steroid-resistant nephrotic syndrome, encephalopathy, and muscular weakness.
Recombinant human PDSS2 protein is engineered using biotechnological platforms (e.g., *E. coli* or mammalian expression systems) to study its enzymatic role, disease mechanisms, and potential therapeutic applications. Its production enables biochemical characterization, such as substrate specificity and interaction with PDSS1. aiding in the understanding of CoQ10 biosynthesis regulation. Researchers also utilize recombinant PDSS2 to develop cell or animal models mimicking CoQ10 deficiency, screen drug candidates for enzyme enhancement, or explore gene therapy strategies. Additionally, recombinant PDSS2 is valuable for producing antibodies for diagnostic assays. Ongoing research focuses on unraveling its structure-function relationships and translational potential in treating mitochondrial disorders.
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