| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | RECQL4 |
| Uniprot No | O94761 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-652 aa |
| 活性数据 | MTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVAFACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAEEPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDRPDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFLAVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGHERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALAHRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSVAFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVRCDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLATEELLQVAR |
| 分子量 | 97.46 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. |
以下是关于重组人RECQL4蛋白的3-4篇参考文献示例及摘要概括：
1. **文献名称**：*Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome*
**作者**：Kitao S. et al. (1999)
**摘要**：该研究首次将RECQL4基因突变与Rothmund-Thomson综合征(RTS)关联，证明RECQL4蛋白缺陷会导致DNA修复异常，进而引发RTS患者的早衰、骨发育异常及癌症易感性。
2. **文献名称**：*RECQL4 promotes genome stabilization through modulation of DNA replication and repair pathways*
**作者**：Lu H. et al. (2016)
**摘要**：文章系统解析了RECQL4在维持基因组稳定性中的多功能性，包括参与DNA复制起始、同源重组修复及端粒维护，其缺失导致染色体断裂和复制压力累积。
3. **文献名称**：*The RecQ helicase RECQL4 regulates metabolic stress-induced premature senescence*
**作者**：Croteau D.L. et al. (2019)
**摘要**：研究发现RECQL4通过调控线粒体功能和抑制活性氧(ROS)积累，延缓代谢应激诱导的细胞早衰，提示其在衰老相关疾病中的潜在保护机制。
4. **文献名称**：*Structural insights into the function of RECQL4 in DNA replication initiation*
**作者**：Xu X. et al. (2020)
**摘要**：通过冷冻电镜技术解析了RECQL4与DNA复制复合体的相互作用结构，揭示其通过结合MCM10等蛋白参与复制起始的分子机制。
**备注**：以上文献为示例，实际引用时需核对期刊名称、卷期号及全文内容，建议通过PubMed或Web of Science获取完整信息。
RECQL4 is a member of the RecQ helicase family, evolutionarily conserved enzymes critical for maintaining genomic stability. Humans encode five RecQ homologs, with RECQL4 mutations linked to severe genetic disorders like Rothmund-Thomson syndrome (RTS), characterized by genomic instability, skeletal abnormalities, and cancer predisposition. Structurally, RECQL4 contains a conserved helicase domain but lacks certain C-terminal regions present in other RecQ proteins (e.g., BLM, WRN), suggesting distinct functional mechanisms. It plays multifaceted roles in DNA replication, repair, and damage response, particularly in resolving replication stress. RECQL4 interacts with key replication proteins (e.g., DNA polymerase δ) and participates in initiating DNA synthesis during replication restart. It also contributes to base excision repair, telomere maintenance, and mitochondrial DNA homeostasis. Despite its helicase activity being weaker than other RecQ members, RECQL4's ATPase-dependent functions are vital for preventing chromosomal breakage. Pathogenic mutations often result in truncated proteins, disrupting its nuclear-cytoplasmic trafficking or DNA-binding capacity. Research on RECQL4 continues to uncover its disease-specific mechanisms and potential as a therapeutic target, particularly in cancers exploiting genomic instability. However, its precise molecular roles and regulatory networks remain incompletely understood, necessitating further study into structure-function relationships and tissue-specific activities.
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