人 COQ7 抗体对
01AB02143
Coenzyme Q7, hydroxylase (COQ7) is a mitochondrial di-iron monooxygenase essential for the biosynthesis of ubiquinone (coenzyme Q). It catalyzes the hydroxylation of 5-demethoxyubiquinone to 5-hydroxyubiquinone and serves a structural role in stabilizing the COQ multi-protein complex. While primarily localized to the mitochondria, a nuclear pool of COQ7 participates in mitochondrial-nuclear retrograde signaling to modulate stress responses and longevity. Clinically, pathogenic variants in COQ7 cause primary coenzyme Q10 deficiency type 8, a condition characterized by impaired mitochondrial respiration and energy metabolism. It is also associated with distal hereditary motor neuronopathy, reflecting the critical requirement for COQ7-mediated ubiquinone production in neuromuscular health and oxidative phosphorylation.
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技术参数
- 靶点基因名
- COQ7
- 蛋白别名
- coenzyme Q7, hydroxylase; COQ7
- UniProt
- Q99807
- 物种
- Human
产品详情
- 靶点名称
- COQ7
- 蛋白名称
- coenzyme Q7, hydroxylase
- 蛋白别名
- NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase; mitochondrial; 3-demethoxyubiquinone 3-hydroxylase; NADH); Timing protein clk-1 homolog; Ubiquinone biosynthesis monooxygenase COQ7
- 靶点基因名
- COQ7
- UniProt
- Q99807
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Coenzyme Q7, hydroxylase (COQ7) is a mitochondrial di-iron monooxygenase essential for the biosynthesis of ubiquinone (coenzyme Q). It catalyzes the hydroxylation of 5-demethoxyubiquinone to 5-hydroxyubiquinone and serves a structural role in stabilizing the COQ multi-protein complex. While primarily localized to the mitochondria, a nuclear pool of COQ7 participates in mitochondrial-nuclear retrograde signaling to modulate stress responses and longevity. Clinically, pathogenic variants in COQ7 cause primary coenzyme Q10 deficiency type 8, a condition characterized by impaired mitochondrial respiration and energy metabolism. It is also associated with distal hereditary motor neuronopathy, reflecting the critical requirement for COQ7-mediated ubiquinone production in neuromuscular health and oxidative phosphorylation.