Overview
| 别名 | Isobutyryl-CoA dehydrogenase; mitochondrial; IBDH; Activator-recruited cofactor 42 kDa component; ARC42; Acyl-CoA dehydrogenase family member 8; ACAD-8 |
| 基因名 | ACAD8 |
| UniProt ID | Q9UKU7 |
| 反应种属 | Human |
| 应用 | WB |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 5K4-F5-T6 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 45 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 | Acyl-CoA dehydrogenase family member 8 (ACAD8) plays a critical role in the catabolism of the branched-chain amino acid valine. Structurally, ACAD8 functions as a homotetramer composed of an NH2-terminal alpha-helical domain, a medial beta-strand domain, and a C-terminal alpha-helical domain, consistent with other members of the acyl-CoA dehydrogenase family. The enzyme catalyzes the third step of valine breakdown by converting isobutyryl-CoA into methylacrylyl-CoA, contributing to cellular energy production through amino acid metabolism. Pathogenic mutations in ACAD8 cause isobutyryl-CoA dehydrogenase deficiency, a rare metabolic disorder that impairs valine catabolism. While most patients remain asymptomatic, some children with the deficiency may develop complications such as dilated cardiomyopathy and transient metabolic disturbances. Diagnosis often occurs via newborn screening, detecting elevated C4-carnitine levels indicative of disrupted valine metabolism and reduced enzyme activity. |
检测原理