| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | DHCR7 |
| Uniprot No | Q9UBM7 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-475aa |
| 氨基酸序列 | MAAKLQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFA PFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLY TLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQA WLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGY FFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTL INLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYI FRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFW GVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHR CASKYGRDWERYTAAVPYRLLPGIF |
| 预测分子量 | 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DHCR7重组蛋白的3篇参考文献示例(文献信息为虚构示例，仅用于展示格式)：
1. **文献名称**：*Structural and functional characterization of human DHCR7 through recombinant expression*
**作者**：Smith, J. et al.
**摘要**：本研究通过大肠杆菌系统重组表达并纯化了人源DHCR7蛋白，利用X射线晶体学解析了其三维结构，揭示了其催化活性位点的关键氨基酸残基，并验证了其在7-脱氢胆固醇转化为胆固醇中的酶活特性。
2. **文献名称**：*Role of DHCR7 mutations in Smith-Lemli-Opitz syndrome: Insights from recombinant protein analysis*
**作者**：Lee, H. & Garcia, R.
**摘要**：通过构建DHCR7的常见致病突变体重组蛋白，分析其酶活性和稳定性，发现特定突变(如p.Trp151Cys)导致蛋白错误折叠和功能丧失，为Smith-Lemli-Opitz综合征的分子机制提供实验依据。
3. **文献名称**：*Optimization of DHCR7 recombinant production in mammalian cells for drug screening*
**作者**：Zhang, Y. et al.
**摘要**：开发了一种基于HEK293细胞的DHCR7重组表达系统，实现了高效分泌表达，并用于高通量筛选小分子抑制剂，为胆固醇代谢相关疾病的药物开发提供工具。
如需真实文献，建议在PubMed或Google Scholar中搜索关键词“DHCR7 recombinant protein”“DHCR7 expression”等。
DHCR7 (7-dehydrocholesterol reductase) is a critical enzyme in the cholesterol biosynthesis pathway, catalyzing the reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. This reaction also serves as the final step in the Kandutsch-Russell pathway of cholesterol synthesis. DHCR7 is encoded by the *DHCR7* gene located on human chromosome 11q13.4. Its enzymatic activity is essential for maintaining cellular cholesterol homeostasis and indirectly influences vitamin D3 synthesis, as 7-DHC is a precursor for cutaneous vitamin D production upon UVB exposure.
Mutations in the *DHCR7* gene are associated with Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive disorder characterized by developmental abnormalities, intellectual disability, and reduced cholesterol levels with elevated 7-DHC concentrations. This link has made DHCR7 a focus of research into inborn errors of metabolism and cholesterol-related pathologies.
Recombinant DHCR7 protein is produced using expression systems like *E. coli* or mammalian cells to study its structure-function relationships, catalytic mechanisms, and mutation impacts. The purified protein typically retains enzymatic activity when properly folded, enabling *in vitro* investigations of substrate binding, inhibitor screening, and thermal stability assays. Researchers utilize DHCR7 recombinant proteins to develop therapeutic strategies for SLOS, including enzyme replacement therapies and pharmacological chaperones to rescue mutant enzyme activity. Additionally, it serves as a tool for exploring cholesterol biosynthesis regulation and its intersection with vitamin D metabolism. Recent studies also investigate DHCR7's potential roles beyond sterol synthesis, such as in cellular stress responses and membrane biology. The recombinant form has become indispensable for both basic research and translational applications targeting cholesterol-related disorders.
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