| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | TIMM8A |
| Uniprot No | O60220 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-97aa |
| 氨基酸序列 | MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDK PGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD |
| 预测分子量 | 13 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TIMM8A重组蛋白的3篇示例参考文献(注：文献信息为假设性概括，实际研究中请核实真实文献)：
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1. **文献名称**：*Structural insights into the human Tim8a-Tim13 complex: Implications for mitochondrial protein transport*
**作者**：Koehler CM, et al.
**摘要**：本研究通过重组表达纯化人源TIMM8A与TIMM13蛋白，解析了其复合体的晶体结构，揭示了二者通过锌指结构域相互作用，参与线粒体内膜前体蛋白的转运机制，为Mohr-Tranebjærg综合征的致病突变提供结构基础。
2. **文献名称**：*Functional characterization of TIMM8A mutations linked to X-linked deafness-dystonia syndrome*
**作者**：Bauer MF, et al.
**摘要**：通过体外重组TIMM8A蛋白及其突变体(如Cys66Trp)，分析了突变对蛋白稳定性及与TIM13结合能力的影响，证明致病突变导致复合体组装缺陷，破坏线粒体蛋白输入功能。
3. **文献名称**：*Expression and purification of recombinant human TIMM8A for interaction studies*
**作者**：Roesch K, et al.
**摘要**：优化了TIMM8A在大肠杆菌中的重组表达条件，利用亲和层析纯化获得高纯度蛋白，并通过pull-down实验证实其与TIM13及线粒体膜转运通道蛋白TIM22的相互作用。
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**备注**：上述文献为示例，实际研究中建议通过PubMed或Web of Science以“TIMM8A recombinant”“TIMM8A structure/function”等关键词检索近年文献。
**Background of TIMM8A Recombinant Protein**
TIMM8A (Translocase of Inner Mitochondrial Membrane 8A), also known as Deafness/Dystonia Peptide 1 (DDP1), is a nuclear-encoded mitochondrial protein crucial for protein import into the mitochondrial inner membrane. It functions as a chaperone within the mitochondrial intermembrane space, assisting in the assembly and stability of the TIM23 complex, which mediates the translocation of presequence-containing proteins across the inner membrane. TIMM8A forms a heterodimeric complex with TIMM13. and mutations in the *TIMM8A* gene are linked to Mohr-Tranebjaerg syndrome, an X-linked neurodegenerative disorder characterized by deafness, dystonia, and optic atrophy.
Recombinant TIMM8A protein is engineered for *in vitro* studies to elucidate its structural and functional roles in mitochondrial protein import and disease mechanisms. Produced via heterologous expression systems (e.g., *E. coli* or mammalian cells), the recombinant protein retains critical features such as the conserved twin CX3C motif, which coordinates zinc ions essential for its stability and interaction with partner proteins. Its applications span biochemical assays (e.g., protein-protein interaction studies), structural analysis (e.g., X-ray crystallography), and cellular models to investigate pathogenic mutations.
Research on recombinant TIMM8A has advanced understanding of mitochondrial dysfunction in neurodegeneration, offering insights into therapeutic strategies targeting mitochondrial protein homeostasis. Additionally, it serves as a tool for screening small molecules or gene therapies aimed at rescuing defects in TIMM8A-associated pathways. Ongoing studies focus on its interplay with other TIM components and its role in stress responses, highlighting its broader relevance in cellular metabolism and disease.
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