| 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 | 1/5000-1/10000 | Human,Mouse,Rat |
| Aliases | CDLS; IDN3; Scc2; CDLS1; IDN3-B |
| 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, Mouse |
| Immunogen | Fusion protein of human NIPBL |
| Formulation | Purified antibody in PBS with 0.05% sodium azide and 50% glycerol. |
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以下是3篇关于NIPBL抗体的参考文献及其简要摘要：
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1. **"Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation"**
*作者：Deardorff MA et al. (2007)*
**摘要**：研究通过Western blot和免疫荧光实验，利用NIPBL抗体发现SMC3/SMC1A基因突变导致Cohesin复合体功能异常，揭示了其与Cornelia de Lange综合征(CdLS)轻型病例的关联。
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2. **"NIPBL, a component of the cohesin complex, is mutated in Cornelia de Lange syndrome"**
*作者：Krantz ID et al. (2004)*
**摘要**：首次报道NIPBL基因突变是CdLS的主要病因，通过NIPBL抗体检测患者细胞中蛋白表达水平下降，证实其与染色质结构调控和发育异常的直接关联。
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3. **"Diagnostic utility of NIPBL antibody staining in Cornelia de Lange syndrome"**
*作者：Yamada K et al. (2019)*
**摘要**：开发了一种基于NIPBL抗体的免疫细胞化学诊断方法，用于快速筛查CdLS患者外周血细胞中NIPBL蛋白表达异常，提升临床诊断效率。
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如需具体DOI或全文链接，可提供更详细信息进一步检索。
**Background of NIPBL Antibody**
The NIPBL antibody targets the Nipped-B-like (NIPBL) protein, a critical regulatory factor involved in chromosomal architecture and cohesion. NIPBL, encoded by the *NIPBL* gene located on chromosome 5p13.2. serves as a loading factor for the cohesin complex—a multi-subunit protein assembly essential for sister chromatid cohesion, DNA repair, and transcriptional regulation. By facilitating cohesin’s loading onto chromatin, NIPBL ensures proper chromosome segregation during cell division and modulates three-dimensional genome organization, influencing gene expression patterns.
Mutations in *NIPBL* are the primary cause of Cornelia de Lange syndrome (CdLS), a rare developmental disorder characterized by craniofacial abnormalities, growth retardation, and intellectual disability. The NIPBL antibody is widely utilized in research to study protein expression, localization, and functional interactions in both normal and diseased states. It aids in diagnosing CdLS through Western blotting, immunofluorescence, or immunohistochemistry, helping correlate genetic variants with clinical phenotypes. Additionally, this antibody is instrumental in exploring cohesinopathies and cancer biology, as cohesin dysfunction is implicated in tumorigenesis. Challenges remain in standardizing detection methods and interpreting low-abundance NIPBL signals in certain tissues. Ongoing studies aim to refine its applications in mechanistic and therapeutic research.
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