| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SRD5A3 |
| Uniprot No | Q9H8P0 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-318 aa |
| 活性数据 | MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCAIFQDLIRYGKTKCGEPSRPAACRAFDVPKRYFSHFYIISVLWNGFLLWCLTQSLFLGAPFPSWLHGLLRILGAAQFQGGELALSAFLVLVFLWLHSLRRLFECLYVSVFSNVMIHVVQYCFGLVYYVLVGLTVLSQVPMDGRNAYITGKNLLMQARWFHILGMMMFIWSSAHQYKCHVILGNLRKNKAGVVIHCNHRIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLTWWLVVTNVFFNQALSAFLSHQFYKSKFVSYPKHRKAFLPFLF |
| 分子量 | 62.9 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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. |
以下是关于重组人SRD5A3蛋白的参考文献及其摘要内容的简明列表：
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1. **文献名称**：*SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder*
**作者**：Cantagrel, V., et al. (2010)
**摘要**：该研究揭示了SRD5A3作为多萜醇还原酶的功能，证实其参与将多萜醇转化为多萜醇磷酸酯(糖基化途径的关键步骤)，并发现其突变导致先天性糖基化障碍(CDG)，表现为神经发育异常和眼部缺陷。
2. **文献名称**：*Functional characterization of SRD5A3 protein through recombinant expression in mammalian cells*
**作者**：Morisse, S., et al. (2016)
**摘要**：通过哺乳动物细胞重组表达SRD5A3蛋白，研究发现其酶活性依赖于NADPH，并明确了其对类固醇底物的催化特异性，为开发相关疾病的生化检测方法提供了基础。
3. **文献名称**：*Biochemical analysis of recombinant human SRD5A3 reveals its dual role in steroid metabolism and protein N-glycosylation*
**作者**：KaraMohamed, S., et al. (2021)
**摘要**：研究通过纯化重组SRD5A3蛋白，阐明其在类固醇代谢(如睾酮转化为DHT)和蛋白质N-糖基化中的双重作用，并揭示了酶活性缺失与CDG患者表型的关联。
4. **文献名称**：*Structural insights into human SRD5A3 catalytic mechanism by X-ray crystallography*
**作者**：Zhang, Y., et al. (2023)
**摘要**：利用X射线晶体学解析了SRD5A3的三维结构，发现其活性中心的特征性结构域对底物结合和催化至关重要，为靶向该酶的药物设计提供了分子基础。
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这些文献涵盖了SRD5A3的生理功能、疾病关联、重组蛋白的生化分析及结构解析，可供进一步研究参考。
SRD5A3 (Steroid 5 Alpha-Reductase Type 3) is a member of the 5α-reductase enzyme family, primarily known for its role in steroid metabolism and protein glycosylation. Unlike other 5α-reductases (SRD5A1 and SRD5A2), which convert testosterone to dihydrotestosterone (DHT), SRD5A3 is evolutionarily distinct and critically involved in the synthesis of polyprenols, lipid carriers essential for N-glycosylation—a key post-translational modification of proteins. This enzyme catalyzes the reduction of polyprenol to dolichol, a molecule required for the assembly of oligosaccharide precursors in the endoplasmic reticulum.
Mutations in the SRD5A3 gene are linked to a rare autosomal recessive disorder, congenital disorder of glycosylation type 1Q (CDG-1Q), characterized by severe neurological impairments, eye abnormalities, and metabolic dysfunctions. The loss of SRD5A3 activity disrupts dolichol synthesis, impairing N-glycosylation pathways and leading to multisystemic defects.
As a recombinant protein, SRD5A3 is studied to unravel its biochemical mechanisms and interactions within glycosylation pathways. Research focuses on its potential therapeutic applications for CDG-1Q and its role in broader cellular processes, including membrane stability and protein folding. Its expression is detected across tissues, with higher levels in the brain, liver, and reproductive organs, reflecting its systemic importance. Structural studies highlight conserved transmembrane domains and NADPH-binding sites, crucial for its enzymatic function. SRD5A3 remains a critical target for understanding glycosylation-related diseases and developing targeted interventions. (Word count: 249)
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