Electron-transferring-flavoprotein Dehydrogenase

Electron-transferring-flavoprotein dehydrogenase (ETFDH) is an enzyme that in humans is encoded by the ETFDH gene. This enzyme is part of the electron transport chain, where it catalyzes the transfer of electrons from electron-transferring-flavoprotein (ETF) to coenzyme Q10 (CoQ10).

Function

ETFDH is located in the mitochondria, the energy-producing organelles within cells. It plays a crucial role in the oxidation of fatty acids and some amino acids. This oxidation process is a major source of energy for the heart and muscles. During this process, ETFDH transfers electrons from ETF to CoQ10 in the electron transport chain, which leads to the production of adenosine triphosphate (ATP), the cell's main energy source.

Clinical significance

Mutations in the ETFDH gene are associated with multiple acyl-CoA dehydrogenase deficiency (MADD), a metabolic disorder that prevents the body from converting certain fats and proteins into energy. Symptoms of MADD can range from mild to severe and can appear anytime from infancy to adulthood.

See also

• Electron-transferring-flavoprotein
• Electron transport chain
• Multiple acyl-CoA dehydrogenase deficiency

References

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.