人 ACAD8 抗体对
01AB02621
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.
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技术参数
- 靶点基因名
- ACAD8
- 基因别名
- ARC42; IBD
- 蛋白别名
- acyl-CoA dehydrogenase family member 8; ACAD8
- UniProt
- Q9UKU7
- 物种
- Human
产品详情
- 靶点名称
- ACAD8
- 蛋白名称
- acyl-CoA dehydrogenase family member 8
- 蛋白别名
- Isobutyryl-CoA dehydrogenase; mitochondrial; IBDH; Activator-recruited cofactor 42 kDa component; ARC42; Acyl-CoA dehydrogenase family member 8; ACAD-8
- 靶点基因名
- ACAD8
- 基因别名
- ARC42; IBD
- UniProt
- Q9UKU7
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.