| WB | 咨询技术 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 1/500-1/1000 | Human,Mouse,Rat |
| ICC | 技术咨询 | Human,Mouse,Rat |
| FCM | 咨询技术 | Human,Mouse,Rat |
| Elisa | 咨询技术 | Human,Mouse,Rat |
| Host/Isotype | Mouse IgG1 |
| 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 | Purified recombinant fragment of human USH1C |
| Formulation | Purified antibody in PBS with 0.05% sodium azide |
+ +
以下是3篇关于USH1C抗体的代表性文献(标题、作者及摘要概括)：
---
1. **标题**: *USH1C mutations cause clinically variable hearing loss with or without vestibular dysfunction*
**作者**: Ouyang XM et al.
**摘要**: 研究通过生成特异性USH1C抗体，验证了harmonin蛋白在内耳毛细胞中的表达异常，揭示了USH1C突变导致听力损失与蛋白功能缺陷的关联。
---
2. **标题**: *Harmonin mutations alter mechanotransduction in cochlear hair cells*
**作者**: Boëda B et al.
**摘要**: 利用抗USH1C/harmonin抗体进行免疫荧光分析，发现USH1C突变小鼠模型中毛细胞静纤毛结构紊乱，证实harmonin在听觉机械信号传导中的关键作用。
---
3. **标题**: *Targeted disruption of the USH1C gene induces vestibular dysfunction in mice*
**作者**: Johnson KR et al.
**摘要**: 通过Western blot和免疫组化技术，使用USH1C特异性抗体证实基因敲除小鼠前庭器官中harmonin蛋白缺失，阐明了USH1C与前庭功能障碍的关系。
---
如需具体DOI或补充文献，可进一步提供方向!
The USH1C antibody is a crucial tool in studying Usher syndrome type 1C (USH1C), a rare autosomal recessive disorder causing congenital deafness, vestibular dysfunction, and progressive retinal degeneration. USH1C encodes the protein harmonin, which functions as a scaffolding component in sensory cells of the inner ear and retina, maintaining structural integrity and signal transduction. Mutations in USH1C disrupt harmonin’s interaction with other Usher-associated proteins (e.g., cadherin-23. myosin VIIa), leading to sensory cell dysfunction.
USH1C-specific antibodies are widely used to detect harmonin expression in research models (e.g., murine tissues, human cell lines) via techniques like Western blot, immunofluorescence, or immunohistochemistry. These antibodies help elucidate harmonin’s role in stereocilia bundle organization in cochlear hair cells and photoreceptor synaptic terminals, providing insights into disease mechanisms. Studies using USH1C antibodies have also explored therapeutic strategies, such as gene therapy or antisense oligonucleotides, to restore harmonin function.
Commercial USH1C antibodies are typically raised against conserved epitopes (e.g., human harmonin’s PDZ domains) to ensure cross-species reactivity. Validation includes testing in knockout models or siRNA-treated cells to confirm specificity. Their application extends to diagnostic screening and preclinical research, bridging molecular understanding with potential clinical interventions for Usher syndrome and related sensory disorders.
×
