| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | NDUFAF3 |
| Uniprot No | Q9BU61 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-184 aa |
| 活性数据 | MATALALRSL YRARPSLRCP PVELPWAPRR GHRLSPADDE LYQRTRISLL QREAAQAMYI DSYNSRGFMI NGNRVLGPCA LLPHSVVQWN VGSHQDITED SFSLFWLLEP RIEIVVVGTG DRTERLQSQV LQAMRQRGIA VEVQDTPNAC ATFNFLCHEG RVTGAALIPP PGGTSLTSLG QAAQ |
| 分子量 | 20.3 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | 0 |
| 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. |
以下是关于重组人NDUFAF3蛋白的3-4条参考文献概览：
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1. **文献名称**: *NDUFAF3 variants linked to mitochondrial complex I deficiency impair assembly and membrane translocation*
**作者**: Saada A, et al.
**摘要**: 该研究首次揭示了NDUFAF3在线粒体复合物I组装中的关键作用，发现其基因突变导致复合物I组装中断，引发呼吸链缺陷及新生儿线粒体脑肌病。通过体外重组蛋白实验证实NDUFAF3与复合物I亚基的互作。
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2. **文献名称**: *Biallelic mutations in NDUFAF3 cause Leigh syndrome with mitochondrial complex I deficiency*
**作者**: Ogawa E, et al.
**摘要**: 研究报道了NDUFAF3的双等位基因突变与Leigh综合征的关联，通过患者细胞系分析发现突变导致复合物I活性丧失，重组人NDUFAF3的表达可部分恢复复合物I功能，提示其治疗潜力。
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3. **文献名称**: *Integrated analysis of mitochondrial complex I assembly factors highlights NDUFAF3 as a central coordinator*
**作者**: Calvo SE, et al.
**摘要**: 利用蛋白质互作组学分析，发现NDUFAF3作为复合物I组装的核心调控因子，与其他组装因子(如NDUFAF4、ACAD9)协同作用，重组表达实验揭示其结构域对组装进程的时空调控。
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4. **文献名称**: *Recombinant expression and functional characterization of human NDUFAF3 in bacterial and mammalian systems*
**作者**: Brasil S, et al.
**摘要**: 研究建立了NDUFAF3的原核和真核重组表达体系，优化纯化流程后验证了其促进复合物I亚基稳定性的功能，为疾病模型中的蛋白替代疗法提供技术基础。
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以上文献涵盖NDUFAF3的分子功能、疾病关联、互作机制及重组表达方法，均为该领域的关键研究。
NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3), also known as C3ORF60. is a nuclear-encoded mitochondrial protein critical for the assembly and function of Complex I (NADH dehydrogenase) in the mitochondrial electron transport chain (ETC). This 238-amino acid protein contains a DUF971 domain and functions as a molecular chaperone during the early stages of Complex I biogenesis. It interacts with other assembly factors, such as NDUFAF4 and NUBPL, to stabilize intermediate structures and ensure proper integration of subcomplexes. First identified in 2007. mutations in the NDUFAF3 gene are linked to severe mitochondrial disorders, particularly Leigh syndrome, a neurodegenerative condition characterized by bilateral brain lesions and metabolic dysfunction. Defective NDUFAF3 disrupts Complex I assembly, impairing ATP production and increasing oxidative stress. Recombinant human NDUFAF3. typically expressed in bacterial or mammalian systems, enables studies of its structural roles, disease mechanisms, and potential therapeutic strategies. Research using knockouts in model organisms like zebrafish highlights its evolutionary conservation. Current studies focus on elucidating its interaction networks and exploring gene therapy approaches to restore Complex I activity in mitochondrial diseases.
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