| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | MCPH1 |
| Uniprot No | Q8NEM0 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-610aa |
| 活性数据 | MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFNKQVTHVIFKDGYQSTWDKAQKRGVKLVSVLWVEKCRTAGAHIDESLFPAANMNEHLSSLIKKKRKCMQPKDFNFKTPENDKRFQKKFEKMAKELQRQKTNLDDDVPILLFESNGSLIYTPTIEINSSHHSAMEKRLQEMKEKRENLSPTSSQMIQQSHDNPSNSLCEAPLNISRDTLCSDEYFAGGLHSSFDDLCGNSGCGNQERKLEGSINDIKSDVCISSLVLKANNIHSSPSFTHLDKSSPQKFLSNLSKEEINLQRNIAGKVVTPHQKQAAGMSQETFEEKYRLSPTLSSTKGHLLIHSRPRSSSVKRKRVSHGSHSPPKEKCKRKRSTRRSIMPRLQLCRSEGRLQHVAGPALEALSCGESSYDDYFSPDNLKERYSENLPPESQLPSSPAQLSCRSLSKKERTSIFEMSDFSCVGKKTRTVDITNFTAKTISSPRKTGNGEGRATSSCVTSAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDDDLTPLEGSLEEMKEAVGLKSTQNKGTTSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKENLPGGYSGSM |
| 分子量 | 94.2 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 0 |
| 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. |
以下是与重组人MCPH1蛋白相关的3篇参考文献及其摘要概括：
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1. **文献名称**: *"MCPH1/BRIT1 regulates the DNA damage response and links to chromosomal instability in human cancer"*
**作者**: Jackson AP et al. (2002)
**摘要**: 该研究首次阐明MCPH1蛋白通过直接结合BRCA1参与DNA损伤应答通路，并发现其在维持基因组稳定性中的作用，突变可能导致小头症及癌症易感性。
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2. **文献名称**: *"A centrosomal function of MCPH1 in regulating cell cycle progression"*
**作者**: Trimborn M et al. (2004)
**摘要**: 通过重组人MCPH1蛋白的体外实验，证实其通过调控细胞周期蛋白(Cyclin B1/CDK1)影响G2/M期转换，并揭示其功能缺失会导致神经前体细胞早熟分化，与小头症发病机制相关。
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3. **文献名称**: *"Structural insights into the microcephaly-associated protein MCPH1"*
**作者**: Kumar A et al. (2010)
**摘要**: 利用重组表达纯化的人MCPH1蛋白解析其N端结构域的三维构象，揭示其通过磷酸化依赖的蛋白互作机制调节染色体凝聚和DNA修复过程的结构基础。
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如需更具体领域的研究文献，可补充说明进一步筛选方向(如蛋白纯化方法或疾病模型等)。
Recombinant human MCPH1 (Microcephalin) protein is a genetically engineered version of the protein encoded by the *MCPH1* gene, which plays critical roles in neurodevelopment and DNA damage response. MCPH1 mutations are linked to primary microcephaly, a neurodevelopmental disorder characterized by reduced brain size and intellectual disability. The protein contains three BRCT (BRCA1 C-terminal) domains, enabling interactions with phosphorylated partners involved in cell cycle regulation, particularly at the G2/M checkpoint. It influences centrosome function, chromosome condensation, and spindle positioning during mitosis, ensuring proper neural progenitor cell division and cortical expansion.
Recombinant MCPH1 is widely used to study molecular mechanisms underlying microcephaly and genomic instability-related diseases, such as cancer. Its production via heterologous expression systems (e.g., *E. coli* or mammalian cells) allows researchers to analyze pathogenic mutations, protein interactions, and downstream pathways. Studies using recombinant MCPH1 have highlighted its role in suppressing premature chromosome condensation and maintaining telomere integrity. Additionally, it serves as a tool for high-throughput screening of compounds targeting DNA repair or cell cycle dysregulation. Ongoing research aims to uncover therapeutic strategies for microcephaly and cancers with defective DNA damage responses, leveraging the recombinant protein’s functional properties.
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