Overview
| 别名 | Myotubularin; Phosphatidylinositol-3; 5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase |
| 基因名 | MTM1 |
| UniProt ID | Q13496 |
| 反应种属 | Human |
| 应用 | WB,IP,CHIP |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 1M7-T1-N5 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 69 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | WB-1:4000; IP-1:100; CHIP-1:100 |
| 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 | Myotubularin 1 (MTM1) is a dual-specificity lipid phosphatase that plays a vital role in skeletal muscle maintenance and cellular trafficking. It primarily dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2), utilizing a catalytic PTP domain and a PH-GRAM domain for membrane recruitment. Through its phosphatase activity, MTM1 regulates endosomal trafficking, EGFR degradation, and the assembly of desmin intermediate filaments, which are essential for mitochondrial morphology and sarcomere stability. Clinical relevance is firmly established, as mutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM). This severe congenital centronuclear myopathy is characterized by profound hypotonia, muscle weakness, and respiratory failure, often resulting in high neonatal mortality. The disease primarily affects males and is defined by impaired muscle fiber differentiation and the persistence of central nuclei in skeletal muscle cells. |
检测原理