COQ7

From WikiMD's Wellness Encyclopedia

COQ7, also known as Coenzyme Q7, mitochondrial, is a protein that in humans is encoded by the COQ7 gene. This protein is involved in the biosynthesis of coenzyme Q10 (CoQ10), a critical component of the electron transport chain that generates adenosine triphosphate (ATP) in mitochondria, the energy-producing structures in cells. CoQ10 is also known for its role as an antioxidant, protecting cells from damage by harmful molecules. The COQ7 gene plays a key role in the modification of CoQ precursors into the fully functional CoQ10.

Function[edit | edit source]

The COQ7 gene encodes a protein that is involved in the hydroxylation step in the biosynthesis of CoQ10. This step is crucial for the conversion of intermediates in the CoQ10 biosynthesis pathway into the final product, which is essential for mitochondrial energy production and antioxidant protection. The activity of COQ7 is highly important for the proper functioning of the electron transport chain, where CoQ10 acts as an electron carrier, facilitating the transfer of electrons from complex I and II to complex III, a process vital for ATP production.

Clinical Significance[edit | edit source]

Mutations in the COQ7 gene have been associated with CoQ10 deficiency, a condition that can lead to a variety of clinical manifestations, including encephalomyopathy, renal failure, and myopathy. Patients with CoQ10 deficiency resulting from COQ7 mutations may benefit from CoQ10 supplementation, although the effectiveness of this treatment can vary depending on the nature of the mutation and the severity of the deficiency.

Research Directions[edit | edit source]

Research on COQ7 and its role in CoQ10 biosynthesis continues to be an area of active investigation. Studies are focused on understanding the detailed mechanism of action of the COQ7 protein, the impact of its deficiency on mitochondrial function, and the development of potential therapeutic strategies for treating conditions associated with CoQ10 deficiency. Additionally, research into the broader implications of CoQ10 in health and disease, such as its potential role in aging, neurodegenerative diseases, and cardiovascular health, underscores the importance of the COQ7 gene in human physiology.

See Also[edit | edit source]

References[edit | edit source]


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Contributors: Prab R. Tumpati, MD