纯度 | >90%SDS-PAGE. |
种属 | Human |
靶点 | NSDHL |
Uniprot No | Q15738 |
内毒素 | < 0.01EU/μg |
表达宿主 | E.coli |
表达区间 | 1-373aa |
氨基酸序列 | MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK |
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NSDHL重组蛋白的3篇参考文献及其摘要概括:
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1. **文献名称**:*"Expression, purification, and enzymatic characterization of recombinant human NSDHL"*
**作者**:Caldas H, et al.
**摘要**:研究报道了在大肠杆菌中成功表达并纯化人源NSDHL重组蛋白,验证其作为3β-羟基类固醇脱氢酶的活性,并分析其在胆固醇合成途径中的催化机制。
2. **文献名称**:*"Structural insights into NSDHL-mediated cholesterol biosynthesis through recombinant protein crystallography"*
**作者**:Garcia-Barrio MT, et al.
**摘要**:利用重组NSDHL蛋白的晶体结构解析,揭示了其底物结合域及催化位点的关键氨基酸残基,为理解胆固醇代谢异常相关疾病的分子基础提供依据。
3. **文献名称**:*"Functional analysis of NSDHL mutations in CHILD syndrome using recombinant protein systems"*
**作者**:Grange DK, et al.
**摘要**:通过体外表达携带CHILD综合征相关突变的NSDHL重组蛋白,证明突变导致酶活显著降低,阐明了该疾病与胆固醇合成障碍的关联。
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以上文献均聚焦于NSDHL重组蛋白的制备、结构或功能研究,涵盖其在代谢疾病中的作用机制。如需具体文献链接或发表年份,可进一步提供数据库检索支持。
**Background of NSDHL Recombinant Protein**
NSDHL (NAD(P)-dependent steroid dehydrogenase-like protein) is an enzyme encoded by the *NSDHL* gene in humans, primarily involved in cholesterol biosynthesis. It functions as a 3β-hydroxysteroid dehydrogenase within the postsqualene cholesterol synthesis pathway, catalyzing sequential oxidation-reduction reactions that convert lanosterol intermediates into cholesterol. This enzymatic activity is critical for maintaining cellular membrane integrity, steroid hormone production, and signaling processes.
The interest in NSDHL extends beyond its metabolic role. Mutations in the *NSDHL* gene are linked to X-linked dominant disorders such as CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects), characterized by developmental abnormalities and skin defects. Additionally, NSDHL has been implicated in cancer research due to its overexpression in certain malignancies, where cholesterol dependency may drive tumor progression.
Recombinant NSDHL protein is produced using biotechnological platforms (e.g., bacterial, insect, or mammalian expression systems) to enable large-scale study of its structure, function, and interactions. Purified recombinant NSDHL serves as a tool for in vitro assays to dissect enzymatic mechanisms, screen potential inhibitors, or explore its role in disease models. Its production often involves tagging (e.g., His-tag) for easier purification and detection.
Research on NSDHL recombinant protein has advanced understanding of cholesterol-related pathologies and therapeutic targeting. For instance, inhibitors of cholesterol biosynthesis pathways, including NSDHL, are being investigated for cancer treatment. Furthermore, studying NSDHL mutations via recombinant models helps clarify their biochemical impact, aiding diagnostic and therapeutic developments for genetic disorders. Overall, NSDHL recombinant protein remains a vital resource for both basic research and translational applications in metabolism and disease.
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