Overview
| 别名 | Adenylosuccinate synthetase isozyme 1; AMPSase 1; AdSS 1; Adenylosuccinate synthetase; basic isozyme; Adenylosuccinate synthetase; muscle isozyme; M-type adenylosuccinate synthetase; Adenylosuccinate synthetase-like 1; AdSSL1; IMP--aspartate ligase 1 |
| 基因名 | ADSS1 |
| UniProt ID | Q8N142 |
| 反应种属 | Human |
| 应用 | WB |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 2M2-F1-Y6 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 50 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 | Adenylosuccinate synthase 1 (ADSS1) is a muscle-enriched cytosolic enzyme that catalyzes the first committed step in the biosynthesis of adenosine monophosphate (AMP) from inosine monophosphate (IMP). As a key component of the purine nucleotide cycle, ADSS1 converts IMP and aspartate into adenylosuccinate, thereby regulating adenine nucleotide pools and supporting energy metabolism in skeletal muscle. This process is vital for maintaining cellular energy balance during periods of high demand. Pathogenic biallelic mutations in the ADSS1 gene cause autosomal recessive adolescent-onset distal myopathy (Myopathy, Distal, 5), characterized by progressive muscle weakness and atrophy, typically beginning in the lower extremities. Additionally, severe loss of ADSS1 function is linked to fetal akinesia deformation sequence, highlighting its essential role in neuromuscular development and function. |
检测原理