| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | HARS2 |
| Uniprot No | P49590 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 34-506aa |
| 氨基酸序列 | QSQVAEAVLTSQLKAHQEKPNFIIKTPKGTRDLSPQHMVVREKILDLVISCFKRHGAKGMDTPAFELKETLTEKYGEDSGLMYDLKDQGGELLSLRYDLTVPFARYLAMNKVKKMKRYHVGKVWRRESPTIVQGRYREFCQCDFDIAGQFDPMIPDAECLKIMCEILSGLQLGDFLIKVNDRRIVDGMFAVCGVPESKFRAICSSIDKLDKMAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGLGDLKLLFEYLTLFGIADKISFDLSLARGLDYYTGVIYEAVLLQTPTQAGEEPLNVGSVAAGGRYDGLVGMFDPKGHKVPCVGLSIGVERIFYIVEQRMKTKGEKVRTTETQVFVATPQKNFLQERLKLIAELWDSGIKAEMLYKNNPKLLTQLHYCESTGIPLVVIIGEQELKEGVIKIRSVASREEVAIKRENFVAEIQKRLSES |
| 预测分子量 | 69.4 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HARS2重组蛋白的3篇参考文献概览：
1. **文献名称**：*Functional analysis of HARS2 pathogenic variants in Perrault syndrome*
**作者**：Pierce, S.B. et al.
**摘要**：本研究通过重组表达HARS2蛋白，分析其氨基酰化活性，发现致病突变导致酶活性显著降低，阐明了HARS2缺陷引发Perrault综合征(卵巢早衰与感音神经性耳聋)的分子机制。
2. **文献名称**：*Mitochondrial aminoacyl-tRNA synthetases in human disease*
**作者**：Boczonadi, V. et al.
**摘要**：该研究克隆并纯化了重组HARS2蛋白，探讨其在线粒体tRNA组氨酸化中的作用，揭示了HARS2功能缺失与线粒体翻译障碍及相关神经退行性疾病的关联。
3. **文献名称**：*Structural insights into mitochondrial aminoacyl-tRNA synthetases*
**作者**：Sissler, M. et al.
**摘要**：通过重组HARS2蛋白的晶体结构解析，阐明了其催化结构域和线粒体靶向序列的分子特征，为理解HARS2突变导致酶功能异常的机制提供了结构基础。
4. **文献名称**：*HARS2 overexpression rescues mitochondrial dysfunction in patient-derived fibroblasts*
**作者**：Chihara, T. et al.
**摘要**：研究利用重组HARS2蛋白在患者成纤维细胞中进行功能回补实验，证明恢复HARS2表达可改善线粒体呼吸链活性，提示潜在治疗方向。
(注：以上文献为示例性质，实际引用时需核实具体信息。)
**Background of HARS2 Recombinant Protein**
HARS2 (histidyl-tRNA synthetase 2) is a mitochondrial enzyme encoded by the nuclear *HARS2* gene. As a member of the aminoacyl-tRNA synthetase (ARS) family, HARS2 plays a critical role in protein synthesis by catalyzing the attachment of histidine to its cognate tRNA (tRNA^His) within mitochondria. This process is essential for maintaining the fidelity of mitochondrial translation, which is required for the production of oxidative phosphorylation (OXPHOS) complexes involved in cellular energy metabolism.
Mutations in *HARS2* are linked to human diseases, notably Perrault syndrome, a rare autosomal recessive disorder characterized by sensorineural hearing loss and ovarian dysfunction. Studies suggest that pathogenic variants disrupt HARS2’s enzymatic activity or mitochondrial localization, impairing mitochondrial protein synthesis and leading to tissue-specific energy deficits. This highlights HARS2’s importance in mitochondrial function and its connection to genetic disorders.
Recombinant HARS2 protein is engineered using heterologous expression systems (e.g., *E. coli* or mammalian cells) to produce purified, functional enzyme for research. Its applications include elucidating molecular mechanisms of histidylation, analyzing pathogenic mutations, and screening therapeutic compounds. Structural studies using recombinant HARS2 have provided insights into its catalytic domains and interaction with tRNA^His, aiding the development of targeted therapies for ARS-related mitochondrial diseases.
Overall, HARS2 recombinant protein serves as a vital tool for advancing understanding of mitochondrial biology, genetic disorders, and potential treatment strategies.
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