| 纯度 | >85% (SDS-PAGE) |
| 种属 | Human |
| 靶点 | APTX |
| Uniprot No | Q9H0Y2 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-356aa |
| 氨基酸序列 | MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHVISQ DFDSPCLKNK KHWNSFNTEY FLESQAVIEM VQEAGRVTVR DGMPELLKLP LRCHECQQLL PSIPQLKEHL RKHWTQ |
| 预测分子量 | 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3篇与APTX(Aprataxin)重组蛋白相关的研究文献示例(内容为模拟概括，请核实原文信息)：
1. **文献名称**: "Structure and function of the DNA repair protein Aprataxin"
**作者**: Ahel I, et al.
**摘要**: 本研究解析了人源APTX蛋白的晶体结构，揭示了其与DNA末端结合的结构域特征。通过重组表达APTX蛋白，证实其在体外具有切除DNA链5'-腺苷酸化末端的能力，支持其在单链DNA损伤修复中的作用机制。
2. **文献名称**: "Recombinant expression and purification of human APTX in E. coli"
**作者**: Date H, et al.
**摘要**: 开发了一种高效的大肠杆菌表达系统用于重组APTX蛋白生产。通过优化密码子使用和纯化步骤(包括镍柱亲和层析和离子交换层析)，获得了高纯度、具有酶活性的APTX蛋白，为后续功能研究提供可靠材料。
3. **文献名称**: "APTX regulates DNA repair pathways through its interaction with XRCC1"
**作者**: Rass U, et al.
**摘要**: 通过重组APTX与XRCC1蛋白的共表达实验，发现二者通过FHA结构域相互作用。研究证明APTX通过调控XRCC1介导的碱基切除修复通路，维持基因组稳定性，缺陷会导致神经退行性疾病表型。
4. **文献名称**: "Enzymatic characterization of pathogenic APTX variants"
**作者**: Breslow DK, et al.
**摘要**: 利用重组表达的多种APTX突变体(如P206L、A198P等)，系统分析了其水解酶活性变化。结果显示突变导致APTX失去修复DNA-腺苷酸中间体的能力，解释了共济失调患者中特定突变致病的分子机制。
注：以上文献信息为领域相关研究的整合概括，实际引用时建议通过PubMed等数据库核对原文标题、作者及具体内容。
APTX (Aprataxin) is a highly conserved protein encoded by the APTX gene, first identified in 2001 through studies linking its mutations to autosomal recessive neurodegenerative disorders, notably ataxia-oculomotor apraxia syndrome 1 (AOA1). This 342-amino-acid protein plays a critical role in DNA single-strand break repair (SSBR), particularly in resolving abortive DNA ligation intermediates. Structurally, APTX contains three functional domains: an N-terminal forkhead-associated (FHA) domain mediating protein interactions, a central histidine triad (HIT) domain with nucleotide hydrolase activity, and a C-terminal zinc finger domain stabilizing DNA binding.
Recombinant APTX protein, typically produced in bacterial (e.g., E. coli) or mammalian expression systems, enables detailed study of its molecular mechanisms. Researchers utilize purified recombinant APTX to investigate its enzymatic activity in hydrolyzing 5'-adenylated DNA termini – a crucial step in repairing stalled DNA breaks caused by oxidative stress or chemotherapeutic agents. Its recombinant form has become essential for developing biochemical assays, structural studies (including X-ray crystallography), and drug discovery platforms targeting DNA repair pathways.
Pathologically, over 40 APTX mutations have been documented in AOA1 patients, with recombinant mutant proteins helping elucidate genotype-phenotype correlations. Current research explores APTX's potential therapeutic applications, including gene therapy vectors and small-molecule enhancers of its repair activity. Recent studies also suggest broader roles in maintaining genomic stability, with implications for cancer biology and aging-related neurodegeneration. The protein's unique ability to process diverse nucleotide substrates continues to drive interest in its biochemical properties and cellular functions.
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