| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | T899I |
| Uniprot No | Q15393 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 819-1217aa |
| 氨基酸序列 | MAEEMVEAAGEDERELAAEMAAAFLNENLPESIFGAPKAGNGQWASVIRVMNPIQGNTLDLVQLEQNEAAFSVAVCRFSNIGEDWYVLVGVAKDLILNPRSVAGGFVYTYKLVNNGEKLEFLHKTPVEEVPAAIAPFQGRVLIGVGKLLRVYDLGKKKLLRKCENKHIANYISGIQTIGHRVIVSDVQESFIWVRYKRNENQLIIFADDTYPRWVTTASLLDYDTVAGADKFGNICVVRLPPNTNDEVDEDPTGNKALWDRGLLNGASQKAEVIMNYHVGETVLSLQKTTLIPGGSESLVYTTLSGGIGILVPFTSHEDHDFFQHVEMHLRSEHPPLCGRDHLSFRSYYFPVKNVIDGDLCEQFNSMEPNKQKNVSEELDRTPPEVSKKLEDIRTRYAF |
| 预测分子量 | 52.1 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T899I重组蛋白的假设性参考文献示例(内容基于常见研究方向推测，建议通过学术数据库核实具体文献)：
1. **文献名称**：*Functional Characterization of the Mitochondrial T899I Mutation in ATP Synthase*
**作者**：Johnson, R. et al.
**摘要**：研究通过重组蛋白技术表达T899I突变的ATP6亚基，发现该突变显著抑制线粒体ATP合成酶的质子通道活性，导致细胞能量代谢障碍，与 Leigh综合征的病理机制相关。
2. **文献名称**：*Expression and Purification of Recombinant T899I-ATP6 Protein for Structural Studies*
**作者**：Smith, L. & Chen, W.
**摘要**：报道利用大肠杆菌系统高效表达并纯化T899I突变型ATP6重组蛋白，通过圆二色谱分析表明突变导致蛋白构象改变，为后续药物筛选提供模型。
3. **文献名称**：*In vitro Analysis of T899I-Induced Oxidative Stress in Recombinant Cell Models*
**作者**：Kim, H. et al.
**摘要**：构建携带T899I突变的HEK293细胞系，发现突变蛋白引发线粒体膜电位下降和ROS过量生成，提示抗氧化剂可能缓解相关疾病表型。
4. **文献名称**：*Targeted Gene Correction of T899I Mutation via CRISPR-Cas9 in Patient-derived Cells*
**作者**：Gonzalez, M. et al.
**摘要**：利用CRISPR-Cas9编辑技术修复患者细胞中的T899I突变，重组蛋白功能恢复验证了基因治疗的潜在可行性。
**注意**：以上为模拟文献，实际研究中请通过PubMed或Web of Science以关键词"T899I"、"MT-ATP6"、"recombinant ATP synthase"检索最新成果。
The T899I recombinant protein is a genetically engineered variant associated with mitochondrial DNA (mtDNA) mutations in the ATP synthase subunit 6 gene (MT-ATP6). This mutation, specifically a thymine-to-adenine substitution at position 8993 (T8993G) or thymine-to-cytosine (T8993C), disrupts the function of ATP synthase (Complex V), a critical enzyme in oxidative phosphorylation. The T899I alteration corresponds to a threonine-to-isoleucine substitution at position 899 of the MT-ATP6-encoded subunit, impairing proton transport and ATP synthesis. This defect is linked to mitochondrial disorders such as Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) and maternally inherited Leigh syndrome (MILS), characterized by neurodegeneration and energy deficiency in high-demand tissues.
Recombinant T899I proteins are typically produced in model systems (e.g., E. coli, yeast, or mammalian cells) to study the mutation's structural and functional impacts. These proteins enable mechanistic insights into how the mutation destabilizes ATP synthase assembly, reduces catalytic efficiency, or increases reactive oxygen species (ROS) production. Researchers use these models to explore genotype-phenotype correlations, as mutation heteroplasmy levels dictate disease severity. Additionally, T899I recombinant proteins serve as tools for drug screening, aiming to identify compounds that restore ATP synthase activity or mitigate oxidative stress. Recent studies also investigate gene-editing approaches (e.g., mitoTALENs) to selectively eliminate mutant mtDNA, highlighting the protein's role in advancing therapeutic strategies for mitochondrial diseases.
×
