| WB | 咨询技术 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 1/50-1/200 | Human,Mouse,Rat |
| ICC | 技术咨询 | Human,Mouse,Rat |
| FCM | 咨询技术 | Human,Mouse,Rat |
| Elisa | 1/1000-1/2000 | Human,Mouse,Rat |
| Aliases | My013; C6orf66; HRPAP20; HSPC125; bA22L21.1 |
| WB Predicted band size | 20 kDa |
| Host/Isotype | Rabbit IgG |
| Antibody Type | Primary antibody |
| Storage | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| Species Reactivity | Human |
| Immunogen | Synthetic peptide of human NDUFAF4 |
| Formulation | Purified antibody in PBS with 0.05% sodium azide and 50% glycerol. |
+ +
以下是关于NDUFAF4抗体的3篇参考文献及其摘要概括：
---
1. **文献名称**：*NDUFAF4 variants are associated with Leigh syndrome and cause a deficiency of the mitochondrial complex I assembly factor*
**作者**：Ogilvie, I., et al.
**摘要**：该研究通过全外显子测序发现NDUFAF4基因突变与Leigh综合征相关。利用NDUFAF4抗体进行蛋白质免疫印迹(Western blot)和免疫荧光分析，证实患者细胞中NDUFAF4蛋白表达缺失，导致线粒体复合物I组装缺陷及呼吸链功能障碍。
---
2. **文献名称**：*The role of NDUFAF4 in mitochondrial complex I biogenesis*
**作者**：Calvo, S.E., et al.
**摘要**：本研究通过CRISPR-Cas9敲除细胞模型结合NDUFAF4抗体进行免疫共沉淀(Co-IP)，揭示NDUFAF4作为复合物I组装辅助因子，与ACAD9和TMEM126B相互作用，调控复合物I的早期组装阶段，其缺失导致线粒体氧化磷酸化功能受损。
---
3. **文献名称**：*Mitochondrial complex I deficiency caused by NDUFAF4 mutations: a phenotypic and genomic analysis*
**作者**：Fassone, E., et al.
**摘要**：研究分析了NDUFAF4突变患者的临床特征和细胞表型，使用NDUFAF4抗体进行组织免疫组化及蛋白质稳定性检测，发现突变导致NDUFAF4降解加速，复合物I活性下降，并验证了靶向分子伴侣药物的潜在治疗作用。
---
**备注**：上述文献为示例，实际文献需通过PubMed或Google Scholar以关键词“NDUFAF4 antibody”、“NDUFAF4 complex I”检索确认。部分研究可能需结合抗体应用于功能验证(如Western blot、免疫荧光等)筛选。
The NDUFAF4 antibody is a crucial tool for studying the function and expression of the NDUFAF4 protein, a key player in mitochondrial complex I (NADH:ubiquinone oxidoreductase) assembly. NDUFAF4. also known as COX-associated protein 4 (COA4), is a nuclear-encoded mitochondrial matrix protein essential for the biogenesis of complex I, the largest enzyme in the electron transport chain. It interacts with other assembly factors, such as NDUFAF5 and ECSIT, to stabilize intermediate subunits during complex I maturation. Dysfunction of NDUFAF4 is linked to mitochondrial disorders, particularly Leigh syndrome, a severe neurodegenerative condition characterized by impaired energy metabolism.
Researchers use NDUFAF4 antibodies primarily in Western blotting, immunofluorescence, and immunohistochemistry to detect protein expression levels, subcellular localization, and potential deficiencies in disease models. These antibodies aid in diagnosing mitochondrial pathologies and elucidating molecular mechanisms underlying complex I deficiencies. Commercially available NDUFAF4 antibodies are typically raised against specific epitopes, often validated in human or murine tissues, with cross-reactivity depending on species homology. Proper validation via knockout controls or siRNA knockdown is critical to ensure specificity, given the structural similarities among mitochondrial proteins. Studies employing this antibody contribute to advancing therapeutic strategies for mitochondrial diseases and understanding metabolic regulation in health and disease.
×
