人硫辛酸脱氢酶抗体对
01AB01951
Dihydrolipoamide dehydrogenase (Lipoamide Dehydrogenase) is a mitochondrial flavoprotein oxidoreductase that serves as the essential E3 component for multiple α-ketoacid dehydrogenase complexes, including pyruvate, α-ketoglutarate, and branched-chain complexes, as well as the glycine cleavage system. It catalyzes the reoxidation of dihydrolipoamide while reducing NAD+ to NADH, utilizing a conserved redox-active disulfide and FAD cofactor. Beyond its canonical metabolic roles, the enzyme exhibits diaphorase activity and contributes to cellular redox homeostasis. Clinically, biallelic mutations in the DLD gene cause dihydrolipoamide dehydrogenase deficiency, a severe mitochondrial disorder characterized by lactic acidosis, progressive neurological deterioration, and Leigh-like lesions.
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技术参数
- 靶点基因名
- DLD
- 基因别名
- GCSL; LAD; PHE3
- 蛋白别名
- dihydrolipoamide dehydrogenase; Lipoamide Dehydrogenase
- UniProt
- P09622
- 物种
- Human
产品详情
- 靶点名称
- Lipoamide Dehydrogenase
- 蛋白名称
- dihydrolipoamide dehydrogenase
- 蛋白别名
- Dihydrolipoyl dehydrogenase; mitochondrial; Dihydrolipoamide dehydrogenase; Glycine cleavage system L protein
- 靶点基因名
- DLD
- 基因别名
- GCSL; LAD; PHE3
- UniProt
- P09622
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Dihydrolipoamide dehydrogenase (Lipoamide Dehydrogenase) is a mitochondrial flavoprotein oxidoreductase that serves as the essential E3 component for multiple α-ketoacid dehydrogenase complexes, including pyruvate, α-ketoglutarate, and branched-chain complexes, as well as the glycine cleavage system. It catalyzes the reoxidation of dihydrolipoamide while reducing NAD+ to NADH, utilizing a conserved redox-active disulfide and FAD cofactor. Beyond its canonical metabolic roles, the enzyme exhibits diaphorase activity and contributes to cellular redox homeostasis. Clinically, biallelic mutations in the DLD gene cause dihydrolipoamide dehydrogenase deficiency, a severe mitochondrial disorder characterized by lactic acidosis, progressive neurological deterioration, and Leigh-like lesions.