Overview
| 别名 | Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1 |
| 基因名 | Dysferlin |
| UniProt ID | O75923 |
| 反应种属 | Human |
| 应用 | IHC-P |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 7J9-I9-U5 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 237 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 | Dysferlin is a large type-II transmembrane protein containing multiple C2 domains that functions as a calcium sensor essential for sarcolemma repair. It facilitates the resealing of muscle cell membranes disrupted by mechanical stress and is critical for the maintenance of T-tubule structure and calcium signaling in skeletal and cardiac muscle. Dysferlin-mediated membrane fusion is vital for muscle fiber integrity. Pathogenic mutations in the DYSF gene lead to a group of muscular dystrophies known as dysferlinopathies, including Miyoshi myopathy and Limb-girdle muscular dystrophy type 2B. These conditions are characterized by progressive muscle weakness and atrophy due to the failure of membrane repair mechanisms. |
检测原理