| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | DEGS1 |
| Uniprot No | O15121 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-323aa |
| 氨基酸序列 | MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDFVMDDTISPYSRMKRHQKGEMVLE |
| 分子量 | 64.3 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. |
1. **"Functional characterization of recombinant human DEGS1 reveals its role as a sphingolipid Δ4-desaturase"**
*Authors: K. Hanada, M. Nishijima*
摘要：该研究首次成功表达并纯化了重组人DEGS1蛋白，证实其在鞘脂代谢中作为Δ4-去饱和酶的功能，并解析了其在神经酰胺转化为脱氢神经酰胺中的关键作用。
2. **"Structural insights into the catalytic mechanism of human DEGS1 through recombinant expression and mutagenesis"**
*Authors: J.E. Vance, R.L. Proia*
摘要：通过重组DEGS1蛋白的晶体结构分析和定点突变实验，揭示了其催化口袋的活性位点结构，阐明了其底物特异性及与遗传性神经病变相关的突变机制。
3. **"DEGS1 deficiency disrupts lipid homeostasis: Analysis using recombinant protein-based cellular models"**
*Authors: T. Hirabayashi, M.H. Park*
摘要：研究利用重组DEGS1蛋白构建细胞模型，发现其缺乏会导致鞘脂代谢失衡，诱发内质网应激和细胞凋亡，为相关遗传性疾病病理机制提供依据。
4. **"A high-throughput assay for DEGS1 activity using recombinant protein and fluorescent lipid analogs"**
*Authors: S. Yamashita, Y. Ikeda*
摘要：开发了一种基于重组DEGS1蛋白的高通量活性检测方法，利用荧光标记脂质类似物，快速评估抑制剂或调控分子对其酶活性的影响，助力药物开发。
注：以上文献信息为模拟示例，实际文献需通过数据库(PubMed/Google Scholar)检索确认。
Recombinant human DEGS1 protein is a engineered form of the delta-4-desaturase, sphingolipid 1 (DEGS1) enzyme, produced using molecular cloning and expression systems. DEGS1. encoded by the *DEGS1* gene, is a membrane-bound fatty acid desaturase critical in sphingolipid metabolism. It catalyzes the final step of de novo sphingolipid biosynthesis by converting dihydroceramide to ceramide through the introduction of a double bond at the C4 position. Ceramide and its derivatives (e.g., sphingomyelin, gangliosides) are essential for membrane structure, cell signaling, and apoptosis regulation. Dysregulation of DEGS1 activity is linked to neurological disorders, including hereditary leukodystrophy and hypomyelinating syndromes, as well as metabolic diseases and cancer.
The recombinant protein is typically expressed in prokaryotic (e.g., *E. coli*) or eukaryotic systems (e.g., HEK293 cells) to ensure proper folding and post-translational modifications. Its production enables biochemical studies, such as enzymatic activity assays, inhibitor screening, and structural analysis via X-ray crystallography or cryo-EM. Research on recombinant DEGS1 has highlighted its role in myelination defects and lipid homeostasis imbalances, with mutations causing infantile-onset neurodegeneration in humans. Additionally, it serves as a target for therapeutic development in diseases involving sphingolipid dysregulation. Studies using recombinant DEGS1 have also clarified substrate specificity, kinetics, and interaction with lipid membranes, advancing understanding of sphingolipid-related pathologies. This tool continues to support investigations into cellular lipid metabolism and potential precision therapies.
×
