| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | FARS2 |
| Uniprot No | O95363 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 37-451aa |
| 氨基酸序列 | MGSSHHHHHHSSGLVPRGSHMPAAECATQRAPGSVVELLGKSYPQDDHSN LTRKVLTRVGRNLHNQQHHPLWLIKERVKEHFYKQYVGRFGTPLFSVYDN LSPVVTTWQNFDSLLIPADHPSRKKGDNYYLNRTHMLRAHTSAHQWDLLH AGLDAFLVVGDVYRRDQIDSQHYPIFHQLEAVRLFSKHELFAGIKDGESL QLFEQSSRSAHKQETHTMEAVKLVEFDLKQTLTRLMAHLFGDELEIRWVD CYFPFTHPSFEMEINFHGEWLEVLGCGVMEQQLVNSAGAQDRIGWAFGLG LERLAMILYDIPDIRLFWCEDERFLKQFCVSNINQKVKFQPLSKYPAVIN DISFWLPSENYAENDFYDLVRTIGGDLVEKVDLIDKFVHPKTHKTSHCYR ITYRHMERTLSQREVRHIHQALQEAAVQLLGVEGRF |
| 预测分子量 | 51 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FARS2重组蛋白的3篇参考文献示例(基于已有研究方向的概括性描述)：
1. **文献名称**：*Functional characterization of FARS2 mutations in mitochondrial encephalopathy using recombinant protein expression*
**作者**：Elo J.M. et al.
**摘要**：该研究通过在大肠杆菌中表达重组人源FARS2蛋白，分析了致病性突变(如p.R195C)对酶活性的影响，证实突变导致苯丙氨酰-tRNA合成酶功能缺陷，从而引发线粒体呼吸链复合物异常。
2. **文献名称**：*Structural insights into the mitochondrial phenylalanyl-tRNA synthetase by recombinant protein crystallography*
**作者**：Sasaki K. et al.
**摘要**：利用昆虫细胞系统表达并纯化重组FARS2蛋白，通过X射线晶体学解析其三维结构，揭示了其底物结合域和ATP催化位点的关键氨基酸，为突变致病机制提供结构基础。
3. **文献名称**：*A high-throughput assay for FARS2 activity screening based on recombinant protein*
**作者**：Wang Y. et al.
**摘要**：开发了一种基于重组FARS2蛋白的高通量酶活性检测方法，用于筛选小分子化合物库，旨在寻找能够增强突变型FARS2残余酶活性的潜在治疗药物。
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**注**：以上文献为示例，实际引用需查询具体数据库(如PubMed)。若需真实文献，可检索关键词“FARS2 recombinant”、“FARS2 expression and purification”等。
FARS2 (Phenylalanyl-tRNA Synthetase 2) is a nuclear-encoded mitochondrial enzyme critical for protein synthesis within mitochondria. It catalyzes the attachment of phenylalanine to its cognate mitochondrial tRNA (mt-tRNAPhe), a vital step in mitochondrial translation. Mutations in the FARS2 gene are linked to autosomal recessive disorders, primarily affecting the nervous system. Clinical manifestations range from early-onset epileptic encephalopathy, developmental regression, and hypotonia to later-onset spastic paraplegia or Leigh-like syndrome, reflecting impaired mitochondrial function in energy-demanding tissues like the brain and muscles.
Recombinant FARS2 protein is engineered to study its structure-function relationships, disease-associated mutations, and therapeutic strategies. Produced via heterologous expression systems (e.g., E. coli or mammalian cells), the recombinant protein retains enzymatic activity to investigate how specific variants disrupt tRNA charging or protein stability. This tool aids in functional validation of genetic variants identified in patients, distinguishing pathogenic mutations from benign polymorphisms.
Research using recombinant FARS2 has highlighted its role in maintaining mitochondrial fidelity, with defects leading to compromised oxidative phosphorylation and cellular energy deficits. It also serves as a substrate for drug screening platforms aiming to restore enzymatic activity in mutation-related pathologies. Despite progress, challenges persist in understanding tissue-specific vulnerability and developing targeted therapies, underscoring the need for continued exploration of FARS2's molecular interactions and regulatory mechanisms in mitochondrial health.
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