| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SMPD1 |
| Uniprot No | P17405 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 47-631aa |
| 氨基酸序列 | LALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC |
| 预测分子量 | 78.2 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SMPD1重组蛋白的3篇参考文献，涵盖其表达、功能及治疗应用：
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1. **文献名称**：*Production and characterization of recombinant human acid sphingomyelinase in mammalian cells*
**作者**：Oliva et al. (2020)
**摘要**：该研究描述了在哺乳动物细胞中高效表达和纯化重组人源酸性鞘磷脂酶(rhASM/SMPD1)的方法，并验证其酶活性和稳定性，为尼曼-匹克病A/B型的酶替代疗法提供基础。
2. **文献名称**：*Cloning and expression of human acid sphingomyelinase cDNA*
**作者**：Schuchman & Desnick (1996)
**摘要**：首次报道了人源SMPD1基因的克隆及其在真核系统中的重组表达，证实重组蛋白可有效水解鞘磷脂，为后续基因治疗和酶学研究奠定基础。
3. **文献名称**：*Recombinant SMPD1 variants for enzyme replacement therapy: Role of glycosylation in stability and activity*
**作者**：Mirzaian et al. (2015)
**摘要**：系统分析了糖基化修饰对重组SMPD1蛋白稳定性和催化活性的影响，发现特定糖型可显著增强其在体内的半衰期和治疗潜力。
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如需进一步扩展，可关注递送系统(如He et al.利用纳米颗粒递送重组SMPD1的动物实验)或临床转化研究(如Oliva团队后续的临床试验数据)。
**Background of SMPD1 Recombinant Protein**
SMPD1 (sphingomyelin phosphodiesterase 1), also known as acid sphingomyelinase (ASM), is a lysosomal enzyme encoded by the *SMPD1* gene. It catalyzes the hydrolysis of sphingomyelin into ceramide and phosphocholine, a critical step in lipid metabolism and cellular membrane homeostasis. Ceramide, a bioactive lipid mediator, regulates key processes such as apoptosis, autophagy, and inflammatory responses, linking SMPD1 to diverse physiological and pathological pathways.
Mutations in *SMPD1* cause reduced ASM activity, leading to sphingomyelin accumulation in lysosomes. This underlies Niemann-Pick disease types A and B, rare lysosomal storage disorders characterized by neurodegeneration, hepatosplenomegaly, and respiratory complications. Beyond genetic disorders, SMPD1 dysfunction is implicated in metabolic syndromes, cardiovascular diseases, cancer, and neurodegenerative conditions like Alzheimer’s, highlighting its broad biomedical relevance.
Recombinant SMPD1 protein is produced via heterologous expression systems (e.g., mammalian, insect, or bacterial cells) to study its structure, function, and therapeutic potential. Purified recombinant SMPD1 retains enzymatic activity, enabling its use in enzyme replacement therapy (ERT) for Niemann-Pick disease. Research-grade SMPD1 also aids in exploring lipid signaling mechanisms, drug screening, and biomarker development. Notably, recombinant variants with optimized stability or delivery profiles are being investigated to enhance treatment efficacy.
Overall, SMPD1 recombinant protein serves as a vital tool for deciphering sphingolipid biology and advancing therapies for diseases linked to sphingomyelin metabolism.
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