Overview
| 别名 | POU domain; class 3; transcription factor 3; Brain-specific homeobox/POU domain protein 1; Brain-1; Brn-1; Octamer-binding protein 8; Oct-8; Octamer-binding transcription factor 8; OTF-8 |
| 基因名 | POU3F3 |
| UniProt ID | P20264 |
| 反应种属 | Human |
| 应用 | IHC-P |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG2a |
| 克隆号 | 5W3-T8-I3 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 50 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | IHC-1:200 |
| 存储缓冲液 | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.09% sodium azide |
| 保存温度 | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| 背景信息 | POU class 3 homeobox 3 (POU3F3) is a POU-domain transcription factor that plays a critical role in the development of the central nervous system. It contains conserved POU-specific and homeobox domains that bind to octamer DNA sequences to regulate the expression of genes involved in neurogenesis, cortical migration, and upper-layer specification in the brain. POU3F3 often works in synergy with other transcription factors, such as SOX4 and SOX11, to coordinate neuronal differentiation. Clinically, pathogenic variants in the POU3F3 gene are the cause of POU3F3-related disorder, also known as Snijders Blok-Fisher syndrome. This neurodevelopmental condition is characterized by global developmental delay, impaired intellectual development, hypotonia, and distinctive dysmorphic features. Affected individuals may also exhibit autism spectrum disorder, behavioral challenges, and speech delays. The severity of the phenotype often correlates with the specific type of mutation, with missense variants frequently associated with more pronounced neurological symptoms. |
检测原理