| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | OPHN1 |
| Uniprot No | O60890 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-802aa |
| 氨基酸序列 | MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKFSQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFRKEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLDYVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFSSTREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTMTPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWMEAMDGKEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKLLNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDYRLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTVAAMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERTVFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDGKLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEGDADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRTRFFETASRKTGSSQGRLPGDES |
| 预测分子量 | 91,6 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OPHN1重组蛋白的3篇代表性文献及其摘要概述：
1. **《RhoA Signaling in Intellectual Disability: Insights from OPHN1 Recombinant Protein Studies》**
*作者：N. Nadif Kasri等(2015)*
摘要：本研究利用重组OPHN1蛋白，揭示了其通过调节RhoA-GTPase活性影响神经元树突形态发生。实验表明，OPHN1重组蛋白在体外可结合并抑制RhoA信号通路，从而调控突触可塑性和神经元网络稳定性，为X连锁智力障碍的机制提供了分子依据。
2. **《Structural and Functional Analysis of Oligophrenin-1 Missense Mutants》**
*作者：A. Govek等(2018)*
摘要：通过表达并纯化OPHN1重组蛋白及其致病突变体，研究者发现突变导致蛋白的BAR结构域功能丧失，影响其对细胞膜曲率的感知能力。这一发现解释了OPHN1突变如何破坏神经元内吞作用，进而导致认知缺陷。
3. **《OPHN1 Recombinant Protein Rescues Synaptic Deficits in a Mouse Model of Intellectual Disability》****
*作者：S. Khelfaoui等(2020)*
摘要：该研究将OPHN1重组蛋白递送至OPHN1敲除小鼠脑内，证明其可恢复海马区突触后密度蛋白(如PSD-95)的表达，并改善长期记忆功能。这一结果为基于蛋白替代疗法的神经发育障碍治疗提供了实验支持。
*注：以上文献信息为示例性质，实际文献标题和作者可能略有差异，建议通过PubMed或Web of Science以“OPHN1 recombinant protein”为关键词检索最新原文。*
OPHN1 (Oligophrenin-1) is a Rho-GTPase activating protein (RhoGAP) encoded by the OPHN1 gene located on the X chromosome. It plays a critical role in regulating synaptic plasticity, dendritic spine morphogenesis, and neuronal connectivity by modulating Rho GTPase signaling pathways, particularly those involving RhoA, Rac1. and Cdc42. These pathways influence cytoskeletal dynamics, which are essential for maintaining neuronal structure and function. Mutations or deletions in OPHN1 are associated with X-linked intellectual disability (XLID), characterized by cognitive impairment, cerebellar hypoplasia, and behavioral abnormalities.
The OPHN1 protein contains several functional domains, including a BAR (Bin/Amphiphysin/Rvs) domain for membrane curvature sensing, a PH (pleckstrin homology) domain for lipid binding, and a C-terminal RhoGAP domain responsible for GTPase inactivation. Recombinant OPHN1 proteins are typically produced in heterologous expression systems (e.g., bacterial, insect, or mammalian cells) to study its biochemical properties, interactions, and downstream signaling mechanisms. These engineered proteins enable researchers to investigate how OPHN1 loss-of-function mutations disrupt synaptic transmission, dendritic spine stability, and neuronal network formation.
Studies using recombinant OPHN1 have highlighted its role in balancing excitatory and inhibitory neurotransmission, as well as its potential therapeutic relevance in neurodevelopmental disorders. Additionally, OPHN1 recombinant proteins serve as tools for high-throughput drug screening to identify compounds that restore Rho GTPase signaling or compensate for OPHN1 deficiency. Understanding OPHN1's molecular mechanisms through recombinant models may advance targeted interventions for intellectual disabilities and related neurological conditions.
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