ETFDH

ETFDH (Electron Transfer Flavoprotein Dehydrogenase) is an enzyme that in humans is encoded by the ETFDH gene. This enzyme is part of the electron transport chain, which is responsible for generating energy in the form of adenosine triphosphate (ATP) within cells.

Function

The ETFDH enzyme is involved in the oxidation of fatty acids and some amino acids. It is a critical component of the mitochondrial respiratory chain, which is responsible for the production of ATP, the main source of energy in cells. The enzyme transfers electrons from ETF to coenzyme Q10 (CoQ10), a process that is essential for the production of ATP.

Clinical significance

Mutations in the ETFDH gene can lead to 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 include muscle weakness, low blood sugar (hypoglycemia), and a variety of other symptoms.

Genetics

The ETFDH gene is located on the long (q) arm of chromosome 4 at position 33. More precisely, the ETFDH gene is located from base pair 158,679,663 to base pair 158,725,299 on chromosome 4.

See also

• Electron transport chain
• Mitochondrial disease
• Metabolic disorder