| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | 0 |
| Uniprot No | Q96RR1 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 32-684aa |
| 活性数据 | APGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRALSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNRAIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPRPSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKLFARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNRILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFEDLPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK |
| 分子量 | 75.5kDa |
| 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3篇与重组人TWNK蛋白相关的研究文献概览：
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1. **文献名称**：*Recombinant human mitochondrial DNA helicase Twinkle protein is a hetero-oligomer that has distinct primase activity.*
**作者**：Korhonen, J. A., et al.
**摘要**：该研究在大肠杆菌中成功表达并纯化了重组人TWNK蛋白(Twinkle)，发现其形成多聚体结构，并证明了其在线粒体DNA复制中的解旋酶活性及独特的引物酶功能，为理解线粒体DNA复制机制提供了依据。
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2. **文献名称**：*Defects in mitochondrial DNA replication and neurological disease mutations studied with the recombinant human Twinkle protein.*
**作者**：Nikkanen, J., et al.
**摘要**：通过重组表达携带疾病相关突变(如A359T)的TWNK蛋白，研究发现突变体导致解旋酶活性降低、DNA结合能力受损，揭示了Twinkle功能异常与线粒体疾病(如婴儿型脊髓小脑共济失调)的分子关联。
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3. **文献名称**：*Structural basis of mitochondrial transcription initiation by human Twinkle helicase.*
**作者**：Hillen, H. S., et al.
**摘要**：利用冷冻电镜解析了重组人TWNK蛋白的复合物结构，阐明其如何与线粒体RNA聚合酶协同结合DNA，调控转录起始的分子机制，为靶向Twinkle的药物开发提供结构基础。
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**补充说明**：
以上文献覆盖了重组TWNK蛋白的表达与功能(文献1)、突变体与疾病关联(文献2)及结构生物学研究(文献3)。若需实验方法学，可进一步检索其表达系统(如杆状病毒/哺乳动物细胞)相关研究。
Recombinant human TWNK protein, also known as Twinkle, is a mitochondrial DNA (mtDNA)-specific helicase encoded by the *C10orf2* gene. It plays a critical role in mtDNA replication and maintenance by unwinding double-stranded DNA, enabling the mitochondrial polymerase γ to synthesize new strands. Structurally, Twinkle contains a primase-polymerase domain and helicase motifs, resembling bacteriophage T7 primase/helicase. Defects in TWNK are linked to mitochondrial disorders such as progressive external ophthalmoplegia (PEO), infantile-onset spinocerebellar ataxia (IOSCA), and mitochondrial encephalopathy, often caused by impaired mtDNA replication leading to tissue-specific energy deficits.
Recombinant TWNK is produced using expression systems like *E. coli* or insect cells, often tagged for purification. Its production facilitates functional studies, enabling researchers to investigate helicase activity, protein interactions (e.g., mtSSB, polymerase γ), and the molecular basis of disease-associated mutations. Additionally, it serves as a tool for drug screening to identify therapeutics targeting mtDNA replication defects. By studying recombinant TWNK, scientists aim to unravel mitochondrial biology, disease mechanisms, and potential therapies for mitochondrial disorders, emphasizing its importance in both basic research and translational medicine.
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