Overview
| 别名 | Katanin-interacting protein |
| 基因名 | KATNIP |
| UniProt ID | O60303 |
| 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 | 3A7-Z9-R3 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 180 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 | Katanin interacting protein (KATNIP) is a conserved cytosolic scaffold protein that localizes to the basal body of primary cilia. It interacts with the microtubule-severing katanin complex to modulate microtubule dynamics and trafficking. KATNIP also binds the ciliary kinase CILK1, increasing its stability and activity, which in turn regulates primary cilium length and signaling. These functions are critical for proper ciliary structure and cellular communication. Biallelic loss-of-function variants in the KATNIP gene are linked to human ciliopathies, specifically Joubert and Joubert-like syndromes. These conditions are characterized by cerebellar vermis hypoplasia, developmental delay, and oculomotor apraxia. Disruption of KATNIP-mediated microtubule and lysosomal functions contributes to the neurodevelopmental phenotypes observed in these disorders. |
检测原理