| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | PCDH19 |
| Uniprot No | Q8TAB3 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 22-678aa |
| 氨基酸序列 | LINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLS |
| 预测分子量 | 100.6 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3篇涉及PCDH19重组蛋白研究的代表性文献(示例格式，部分为假设性内容)：
1. **《PCDH19重组蛋白的表达及其在癫痫发病中的功能研究》**
- 作者：Hayashi S, et al. (2019)
- 摘要：首次在大肠杆菌系统中成功表达重组PCDH19胞外结构域，证实其通过钙离子依赖性细胞粘附影响神经突触发育，突变体导致神经元网络异常。
2. **《PCDH19基因突变对重组蛋白结构与功能的影响》**
- 作者：Dibbens LM, et al. (2020)
- 摘要：通过体外重组蛋白模型分析PCDH19突变体，发现特定错义突变破坏蛋白二聚化能力，可能与癫痫患者神经元迁移障碍相关。
3. **《PCDH19重组蛋白介导的细胞间信号传导机制》**
- 作者：Tan C, et al. (2021)
- 摘要：利用HEK293细胞表达重组PCDH19.揭示其通过Wnt/β-catenin通路调控神经干细胞分化，突变导致信号通路异常激活。
4. **《靶向PCDH19重组蛋白的潜在治疗策略》**
- 作者：Bassani S, Passafaro M (2022)
- 摘要：综述PCDH19重组蛋白在疾病模型中的应用，提出基于结构设计的小分子化合物可恢复其突触功能。
**注**：以上为示例性内容，实际文献需通过PubMed或Google Scholar以关键词“PCDH19 recombinant protein”、“PCDH19 gene expression”检索获取最新研究。
PCDH19 (protocadherin 19) is a member of the δ2-subfamily of non-clustered protocadherins, a group of transmembrane proteins involved in cell-cell adhesion and signaling. Encoded by the PCDH19 gene on the X chromosome, it plays critical roles in neurodevelopment, including neuronal migration, synaptic formation, and intercellular communication. Mutations in PCDH19 are linked to a rare X-linked disorder called PCDH19-related epilepsy or developmental and epileptic encephalopathy 9 (DEE9), characterized by early-onset seizures, cognitive impairment, and behavioral abnormalities. Unlike most X-linked disorders, PCDH19 mutations predominantly affect females and mosaic males due to cellular interference caused by random X-chromosome inactivation or somatic mosaicism.
Recombinant PCDH19 proteins are engineered versions of the native protein, typically produced in vitro using expression systems like bacterial, insect, or mammalian cells. These proteins retain key functional domains, including six extracellular cadherin repeats, a transmembrane region, and a cytoplasmic tail. Researchers use recombinant PCDH19 to study its structure-function relationships, interaction partners (e.g., γ-aminobutyric acid receptors), and pathogenic mechanisms. For instance, studies suggest that PCDH19 mutations disrupt homophilic adhesion, leading to abnormal neuronal network synchronization and hyperexcitability.
Applications of recombinant PCDH19 extend to drug screening, antibody development, and disease modeling. Its purified form enables in vitro assays to identify molecules that modulate adhesion or signaling pathways. However, challenges remain in mimicking post-translational modifications and membrane localization in recombinant systems, which may affect functional analyses. Ongoing research aims to refine production methods and leverage structural insights to develop targeted therapies for PCDH19-related disorders.
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