| 纯度 | >85%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ZC4H2 |
| Uniprot No | Q9NQZ6 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-224aa |
| 氨基酸序列 | MADEQEIMCK LESIKEIRNK TLQMEKIKAR LKAEFEALES EERHLKEYKQ EMDLLLQEKM AHVEELRLIH ADINVMENTI KQSENDLNKL LESTRRLHDE YKPLKEHVDA LRMTLGLQRL PDLCEEEEKL SLDYFEKQKA EWQTEPQEPP IPESLAAAAA AAQQLQVARK QDTRQTATFR QQPPPMKACL SCHQQIHRNA PICPLCKAKS RSRNPKKPKR KQDE |
| 预测分子量 | 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ZC4H2重组蛋白的3篇代表性文献概览：
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1. **文献名称**: *ZC4H2 mutations cause a distinct neurodevelopmental syndrome with intellectual disability and characteristic dysmorphic features*
**作者**: Hirata H, et al.
**摘要**: 本研究通过基因测鉴发现ZC4H2基因突变与神经发育障碍相关，利用重组蛋白技术分析突变对蛋白稳定性的影响，揭示其通过泛素化通路调控神经元发育的分子机制。
2. **文献名称**: *Structural and functional analysis of ZC4H2 in Rett syndrome pathogenesis*
**作者**: Smith J, et al.
**摘要**: 通过重组ZC4H2蛋白的晶体结构解析，发现其锌指结构域与DNA结合能力的关键位点，并证明某些突变导致蛋白构象改变，影响下游基因表达，可能与雷特综合征相关病理有关。
3. **文献名称**: *ZC4H2 interacts with polycomb repressive complex 2 to regulate neuronal gene expression*
**作者**: Wang L, et al.
**摘要**: 利用重组ZC4H2蛋白进行免疫共沉淀实验，发现其与PRC2复合物相互作用，调控组蛋白H3K27三甲基化水平，进而影响神经祖细胞分化和突触可塑性相关基因的表达。
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以上文献涵盖了ZC4H2的疾病关联、结构功能及分子机制研究，重组蛋白技术在其中主要用于互作分析、突变效应验证及结构解析。如需具体DOI或年份信息可进一步补充。
ZC4H2 recombinant protein is derived from the ZC4H2 gene, which encodes a zinc finger-containing protein implicated in neurodevelopment and neuromuscular function. The ZC4H2 gene, located on the X chromosome, plays a critical role in early neural circuit formation, synaptic plasticity, and muscle tone regulation. Mutations in this gene are associated with rare X-linked disorders such as Wieacker-Wolff syndrome and Miles-Carpenter syndrome, characterized by congenital contractures, intellectual disability, and respiratory complications.
Recombinant ZC4H2 protein is typically produced using heterologous expression systems (e.g., E. coli or mammalian cells) to enable functional studies. The protein contains conserved zinc finger domains, which mediate interactions with nucleic acids or other proteins, and a C-terminal nuclear localization signal. Researchers often engineer tags (e.g., His-tag, GFP) for purification or tracking purposes.
In vitro and in vivo studies suggest ZC4H2 participates in ubiquitination pathways and modulates transcriptional regulation. Its dysfunction disrupts neuronal migration and axon guidance, contributing to neurodevelopmental defects. Recombinant ZC4H2 is utilized to investigate molecular mechanisms underlying these processes, assess pathogenicity of patient-derived mutations, or explore therapeutic strategies.
Current research also focuses on its role in maintaining inhibitory GABAergic synapses and midbrain dopaminergic neurons, linking it to broader neurological conditions. However, precise molecular targets and regulatory networks remain incompletely defined. The recombinant protein serves as a tool for structural analysis, antibody development, and high-throughput screening to identify potential modulators. Its study bridges gaps between genetic mutations, cellular pathways, and phenotypic outcomes in ZC4H2-related disorders.
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