Overview
| 别名 | Centrosomal protein of 290 kDa; Cep290; Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; CT87; Nephrocystin-6; Tumor antigen se2-2 |
| 基因名 | CEP290 |
| UniProt ID | O15078 |
| 反应种属 | Human |
| 应用 | IHC-P,ICC/IF |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 1M6-O2-E9 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 290 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | IHC-1:200; IF-1:250 |
| 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 | Centrosomal protein 290 (CEP290) is a critical centrosomal and ciliary protein essential for the development and maintenance of primary cilia, particularly in photoreceptors. It functions as a structural bridge between the microtubule core and the ciliary membrane, facilitating the assembly of the transition zone to regulate protein trafficking into the ciliary compartment. CEP290 contains multiple coiled-coil domains and motifs that enable microtubule and membrane binding, and its activity is modulated by interactions with inhibitory proteins like CP110. Clinically, mutations in CEP290 are well-established causes of various ciliopathies. Most notably, it is the primary gene associated with Leber Congenital Amaurosis (LCA), leading to early-onset blindness. Furthermore, CEP290 mutations are implicated in complex syndromic conditions, including Meckel-Gruber, Senior-Løken, Bardet-Biedl, and Joubert syndromes, reflecting its widespread importance in ciliary function across multiple organ systems. |
检测原理