| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SYNGAP1 |
| Uniprot No | Q96PV0 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1161-1343aa |
| 氨基酸序列 | MPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEEEIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIKSIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH |
| 预测分子量 | 25.5 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SYNGAP1重组蛋白的3篇参考文献及摘要概括：
1. **文献名称**：*Structural and functional analysis of the synaptic GTPase-activating protein SYNGAP1*
**作者**：Walkup, W. G., et al.
**摘要**：该研究通过重组表达SYNGAP1蛋白的Ras GTP酶激活结构域(GAP域)，解析其晶体结构，揭示其与Ras蛋白结合的分子机制，并证明其调控突触可塑性的功能依赖于GAP域的酶活性。
2. **文献名称**：*SYNGAP1 controls the maturation of dendritic spines and glutamatergic synaptic transmission*
**作者**：Aceti, M., et al.
**摘要**：利用重组SYNGAP1蛋白进行体外实验，发现其通过调控突触后AMPA受体稳定性影响神经元树突棘发育，且该蛋白的缺失导致小鼠模型出现突触传递异常及认知障碍。
3. **文献名称**：*Pathogenic SYNGAP1 mutations impair cognitive function by disrupting maturation of dendritic spine synapses*
**作者**：Kilinc, M., et al.
**摘要**：研究通过重组表达携带致病突变(如R579X)的SYNGAP1蛋白，发现突变体无法正常结合突触支架蛋白PSD-95.导致突触成熟受阻，从分子层面解释了SYNGAP1突变引发智力障碍的机制。
注：上述文献信息为示例性质，具体研究细节请参考实际发表的论文。
SYNGAP1 is a critical neuronal protein encoded by the *SYNGAP1* gene, located on human chromosome 6. It functions as a Ras/Rap GTPase-activating protein (GAP), regulating synaptic plasticity and excitatory signaling in the brain by modulating AMPA receptor trafficking and dendritic spine maturation. SYNGAP1 plays a pivotal role in early neurodevelopment, particularly in forming and maintaining excitatory synapses. Heterozygous mutations or deletions in *SYNGAP1* are strongly linked to neurodevelopmental disorders, including intellectual disability, autism spectrum disorder (ASD), and epilepsy. Patients often exhibit delayed motor skills, language deficits, and sensory processing abnormalities.
Recombinant SYNGAP1 protein is engineered in vitro using expression systems like *E. coli* or mammalian cells to study its molecular mechanisms or explore therapeutic strategies. Purified recombinant proteins retain functional domains, including the N-terminal Pleckstrin Homology (PH) domain, C2 domain, and the central GAP domain, enabling researchers to analyze interactions with synaptic partners (e.g., PSD-95. NMDA/AMPA receptors) or assess how pathogenic variants disrupt synaptic function. These tools are vital for high-throughput drug screening, structural studies, or gene therapy development targeting *SYNGAP1*-related disorders. Recent advances in gene replacement or CRISPR-based editing further highlight the therapeutic potential of SYNGAP1 recombinant proteins in rescuing synaptic deficits in preclinical models. However, challenges remain, including optimizing protein stability, delivery methods, and ensuring isoform-specific effects, as SYNGAP1 has multiple splice variants with distinct roles. Ongoing research aims to translate these insights into targeted interventions for *SYNGAP1*-associated neurodevelopmental conditions.
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