| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | PMS1 |
| Uniprot No | P54277 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-166 aa |
| 活性数据 | MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGKKVALYTNILYLFCLNCWFKKKKVTR |
| 分子量 | 44 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. |
以下是与重组人PMS1蛋白相关的3篇参考文献及简要摘要：
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1. **"Cloning and characterization of the human PMS1 gene homolog"**
- **作者**: Nicolaides NC, et al.
- **摘要**: 该研究首次报道了人类**PMS1**基因的克隆，发现其编码的蛋白属于DNA错配修复系统(MMR)，并通过与MLH1蛋白结合形成复合物参与纠正复制错误。研究还分析了PMS1基因突变与遗传性结直肠癌(HNPCC)的潜在关联。
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2. **"Interaction of human PMS1 with MLH1 and its role in DNA mismatch repair"**
- **作者**: Müller A, et al.
- **摘要**: 通过体外重组表达PMS1和MLH1蛋白，研究发现两者直接结合形成功能性复合物，并证实该复合物在识别和修复DNA复制错误(如单碱基错配和小插入/缺失环)中起关键作用，为MMR机制提供分子基础。
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3. **"Functional analysis of PMS1 mutations in yeast and human cells"**
- **作者**: Zhang L, et al.
- **摘要**: 利用酵母模型和人类细胞系，研究重组表达携带不同突变的PMS1蛋白，发现特定位点突变会导致MMR功能丧失，并诱发微卫星不稳定(MSI)和基因组广泛突变，支持PMS1缺陷在癌症发生中的作用。
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注：PMS1相关研究早期文献较多集中于功能机制，近年则侧重与癌症关联分析。实际引用时建议通过PubMed或Web of Science核对最新进展。
**Background of Recombinant Human PMS1 Protein**
The PMS1 (Postmeiotic Segregation Increased 1) protein is a critical component of the DNA mismatch repair (MMR) system, which ensures genomic stability by correcting errors introduced during DNA replication. PMS1 belongs to the MutL homolog family, forming a heterodimer with MLH1 to coordinate repair activities. It plays a key role in recognizing mismatched bases and recruiting downstream enzymes for excision and resynthesis.
Mutations in the *PMS1* gene are linked to Lynch syndrome, a hereditary cancer predisposition disorder associated with colorectal, endometrial, and other cancers. These mutations compromise MMR efficiency, leading to microsatellite instability (MSI) and elevated tumorigenesis.
Recombinant human PMS1 protein is engineered via heterologous expression systems (e.g., *E. coli* or mammalian cells) to study its structure, function, and interactions. Purified recombinant PMS1 facilitates *in vitro* analyses, such as elucidating repair mechanisms, assessing pathogenicity of genetic variants, and screening therapeutic agents targeting MMR deficiencies. Its applications span cancer research, diagnostics (e.g., MSI testing), and drug development. Studies also explore its role beyond replication repair, including meiotic recombination and immune response modulation.
Overall, recombinant PMS1 serves as a vital tool for advancing understanding of genomic maintenance mechanisms and their implications in disease.
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