Overview
| 别名 | DNA-binding protein SMUBP-2; ATP-dependent helicase IGHMBP2; Glial factor 1; GF-1; Immunoglobulin mu-binding protein 2 |
| 基因名 | IGHMBP2 |
| UniProt ID | P38935 |
| 反应种属 | Human |
| 应用 | WB |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 1L1-H8-R7 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 109 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | WB-1:1000 |
| 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 | Immunoglobulin mu DNA binding protein 2 (IGHMBP2) is an ATP-dependent 5' to 3' helicase that unwinds both RNA and DNA duplexes, with a preference for guanine-rich sequences. It contains a helicase core, an R3H domain, and a zinc-finger domain that collectively regulate its enzymatic activity and RNA binding. IGHMBP2 is essential for various cellular processes, including DNA replication, protein translation, and ribosome biogenesis. Clinically, mutations in the IGHMBP2 gene are the cause of spinal muscular atrophy with respiratory distress type 1 (SMARD1), a severe neuromuscular disorder. These mutations typically impair the protein's helicase function, leading to the progressive degeneration of alpha-motor neurons in the spinal cord and brainstem. Additionally, IGHMBP2 mutations are associated with Charcot-Marie-Tooth disease and distal hereditary motor neuronopathy, highlighting its critical role in neuronal survival and function. |
检测原理