人 NDUFA2 抗体对
01AB03150
NADH:ubiquinone oxidoreductase subunit A2 (NDUFA2) is a nuclear-encoded accessory subunit of mitochondrial complex I, located within the inner mitochondrial membrane. As a component of the hydrophobic alpha subcomplex, NDUFA2 is essential for the proper assembly, stability, and redox-related regulation of the complex I holoenzyme. Complex I is the first enzyme of the mitochondrial respiratory chain, responsible for transferring electrons from NADH to ubiquinone and driving proton translocation for ATP synthesis. Clinically, pathogenic variants in NDUFA2 are a well-defined cause of mitochondrial complex I deficiency and are specifically associated with Leigh syndrome. This progressive neurodegenerative disorder is characterized by developmental delay, lactic acidosis, and bilateral brain lesions, resulting from impaired mitochondrial energy production and membrane depolarization.
| 规格 | 起售价 |
|---|---|
| 登录后可查看 | |
技术参数
- 靶点基因名
- NDUFA2
- 蛋白别名
- NADH:ubiquinone oxidoreductase subunit A2; NDUFA2
- UniProt
- O43678
- 物种
- Human
产品详情
- 靶点名称
- NDUFA2
- 蛋白名称
- NADH:ubiquinone oxidoreductase subunit A2
- 蛋白别名
- NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2; Complex I-B8; CI-B8; NADH-ubiquinone oxidoreductase B8 subunit
- 靶点基因名
- NDUFA2
- UniProt
- O43678
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
NADH:ubiquinone oxidoreductase subunit A2 (NDUFA2) is a nuclear-encoded accessory subunit of mitochondrial complex I, located within the inner mitochondrial membrane. As a component of the hydrophobic alpha subcomplex, NDUFA2 is essential for the proper assembly, stability, and redox-related regulation of the complex I holoenzyme. Complex I is the first enzyme of the mitochondrial respiratory chain, responsible for transferring electrons from NADH to ubiquinone and driving proton translocation for ATP synthesis. Clinically, pathogenic variants in NDUFA2 are a well-defined cause of mitochondrial complex I deficiency and are specifically associated with Leigh syndrome. This progressive neurodegenerative disorder is characterized by developmental delay, lactic acidosis, and bilateral brain lesions, resulting from impaired mitochondrial energy production and membrane depolarization.