Overview
| 别名 | Protein fantom; Nephrocystin-8; RPGR-interacting protein 1-like protein; RPGRIP1-like protein |
| 基因名 | RPGRIP1L |
| UniProt ID | Q68CZ1 |
| 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 | 5L9-F5-F9 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 151 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | IHC-1:100-1:200 |
| 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 | RPGRIP1 like (RPGRIP1L) is a scaffolding protein essential for the structural and functional integrity of primary cilia. It contains coiled-coil, C2, and RPGR-interacting domains that support its roles in protein localization, vesicular trafficking, and disk morphogenesis, particularly within photoreceptors. RPGRIP1L enables calcium-dependent membrane interactions and exhibits dynamic subcellular behavior similar to its paralog, RPGRIP1. Clinically, mutations in the RPGRIP1L gene are a primary cause of Joubert syndrome and related ciliopathies, such as Meckel-Gruber syndrome and nephronophthisis. These conditions are characterized by a spectrum of developmental defects, including cerebellar vermis hypoplasia, retinal dystrophy, renal cysts, and polydactyly, underscoring the protein's critical role in neurodevelopment and organogenesis. |
检测原理