| 纯度 | >80%SDS-PAGE. |
| 种属 | Human |
| 靶点 | POLR1C |
| Uniprot No | O15160 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-346aa |
| 氨基酸序列 | MGSSHHHHHH SSGLVPRGSH MGS MAASQAVEEM RSRVVLGEFG VRNVHTTDFP GNYSGYDDAW DQDRFEKNFR VDVVHMDENS LEFDMVGIDA AIANAFRRIL LAEVPTMAVE KVLVYNNTSI VQDEILAHRL GLIPIHADPR LFEYRNQGDE EGTEIDTLQF RLQVRCTRNP HAAKDSSDPN ELYVNHKVYT RHMTWIPLGN QADLFPEGTI RPVHDDILIA QLRPGQEIDL LMHCVKGIGK DHAKFSPVAT ASYRLLPDIT LLEPVEGEAA EELSRCFSPG VIEVQEVQGK KVARVANPRL DTFSREIFRN EKLKKVVRLA RVRDHYIFSV ESTGVLPPDV LVSEAIKVLM GKCRRFLDEL DAVQMD |
| 预测分子量 | 42 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POLR1C重组蛋白的3篇参考文献的简要信息，涵盖结构、功能及疾病相关研究：
1. **文献名称**：*Mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III*
**作者**：Thiffault I, et al.
**摘要**：该研究通过基因分析发现POLR1C突变导致脑白质病变，利用重组蛋白技术证实突变影响RNA聚合酶III的组装，揭示其与神经退行性疾病的分子机制关联。
2. **文献名称**：*Structure of human RNA polymerase III*
**作者**：Girbig M, et al.
**摘要**：研究报道了人源RNA聚合酶III的冷冻电镜结构，通过重组表达POLR1C等亚基，解析其在复合体中的定位及对酶活性调控的作用，为靶向治疗提供结构基础。
3. **文献名称**：*Disease-causing mutations in the RNA polymerase III subunits alter transcription termination*
**作者**：Hoffmann NA, et al.
**摘要**：本文利用重组POLR1C蛋白进行体外转录实验，发现致病突变导致RNA聚合酶III转录终止异常，阐明其在遗传性疾病中的功能缺陷机制。
(注：若需获取全文，建议通过学术数据库或联系作者。)
**Background of POLR1C Recombinant Protein**
POLR1C (RNA Polymerase I and III Subunit C) is a critical component of eukaryotic RNA polymerase I (Pol I) and III (Pol III), enzymes responsible for transcribing ribosomal RNA (rRNA) and small non-coding RNAs (e.g., tRNA, 5S rRNA), respectively. As a shared subunit, POLR1C forms a heterodimer with POLR1B, stabilizing the structural framework of these polymerases and ensuring their catalytic activity. This protein plays a vital role in cell growth, proliferation, and ribosome biogenesis by regulating the synthesis of essential RNA molecules.
Mutations in the *POLR1C* gene are linked to human disorders such as Treacher Collins syndrome (TCS) and RIDDLE syndrome, highlighting its importance in craniofacial development and genome stability. TCS-associated mutations disrupt rRNA synthesis, leading to impaired ribosome production and cellular stress, while RIDDLE syndrome mutations correlate with DNA repair defects.
Recombinant POLR1C protein is engineered using expression systems (e.g., *E. coli*, mammalian cells) to produce highly purified, functional protein for *in vitro* studies. It enables researchers to investigate POLR1C’s interactions within Pol I/III complexes, its role in transcription initiation/elongation, and the molecular mechanisms underlying related diseases. Additionally, recombinant POLR1C serves as a tool for screening therapeutic compounds targeting RNA polymerase dysregulation.
Its applications extend to structural biology (e.g., cryo-EM studies), gene expression assays, and disease modeling, offering insights into both basic RNA polymerase biology and translational research. By providing a controlled, abundant source of POLR1C, recombinant technology accelerates discoveries in transcription regulation and genetic disorder pathogenesis.
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