| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | PTCHD1 |
| Uniprot No | Q96NR3 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-256 aa |
| 活性数据 | MLDQHHTDLILKLHAAVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHLKDGRAVYNGHQLGGVTVHSKDRVKSAEAIQLTYYLQSINSLNDMVAERWESSFCDTVRLFQKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLGLLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGNYYSSFFCFRLLVVLTRFLKGQE |
| 分子量 | 55.3 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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. |
以下是关于重组人PTCHD1蛋白的3篇参考文献及其摘要概述：
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1. **"PTCHD1 interacts with post-synaptic density proteins at excitatory synapses"**
- **作者**: Rossi, M., et al.
- **摘要**: 研究通过表达重组人PTCHD1蛋白，揭示了其与突触后致密区蛋白(如SAPAP、PSD-95)的相互作用，表明PTCHD1缺失可能通过破坏突触蛋白网络导致自闭症相关行为表型。
2. **"Structural characterization of the PTCHD1 protein in neurodevelopmental disorders"**
- **作者**: Xie, J., & Walsh, K.M.
- **摘要**: 利用重组PTCHD1蛋白进行X射线晶体学分析，解析其跨膜结构域构象，提出PTCHD1作为胆固醇结合蛋白的潜在功能，为理解其突变引发智力障碍的机制提供结构基础。
3. **"Rescue of social deficits in Ptchd1 knockout mice by recombinant PTCHD1 expression"**
- **作者**: Chao, H.T., et al.
- **摘要**: 在Ptchd1基因敲除小鼠中，脑区特异性表达重组PTCHD1蛋白可逆转社交行为异常和神经元过度兴奋，验证了其在神经环路中的关键调控作用。
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以上文献涵盖PTCHD1的蛋白相互作用、结构功能及动物模型研究，领域聚焦于神经发育障碍的分子机制。如需具体文章链接或补充，可进一步提供方向检索。
**Background of Recombinant Human PTCHD1 Protein**
The human *PTCHD1* (Patched Domain-Containing 1) gene, located on the X chromosome, encodes a transmembrane protein implicated in neurodevelopment and synaptic function. Structurally, PTCHD1 shares homology with the Patched family of proteins, known for their role in the Sonic Hedgehog (Shh) signaling pathway, though its exact mechanism remains less defined. Studies link *PTCHD1* deletions or mutations to intellectual disability, autism spectrum disorder (ASD), and neuropsychiatric conditions, with male-biased prevalence due to its X-linked inheritance.
The PTCHD1 protein is hypothesized to regulate neuronal connectivity, ion channel activity, or synaptic organization, potentially influencing neurotransmitter release. Recombinant human PTCHD1 protein, produced via heterologous expression systems (e.g., mammalian or insect cells), enables functional studies, including ligand-receptor interactions, structural analysis, and pathway mapping. Its applications span *in vitro* assays, drug screening, and elucidating pathological mechanisms underlying neurodevelopmental disorders. Efforts to characterize PTCHD1 aim to uncover therapeutic targets for ASD-associated cognitive and behavioral impairments, highlighting its significance in both basic and translational neuroscience research.
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