NDUFA8

NDUFA8 is a protein that in humans is encoded by the NDUFA8 gene. The protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.

Function

The NDUFA8 protein is a subunit of the respiratory chain Complex I (RCI), also known as NADH:ubiquinone oxidoreductase. This is the first enzyme complex in the electron transport chain of mitochondria, which is responsible for the transfer of electrons from NADH to coenzyme Q10 (CoQ10) and contributes to a proton gradient across the inner mitochondrial membrane that is used for ATP synthesis.

Clinical significance

Mutations in the NDUFA8 gene have been associated with mitochondrial complex I deficiency, a disorder that can cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the nervous system and the heart.

Structure

The NDUFA8 subunit is one of about 45 subunits that make up the NADH dehydrogenase (ubiquinone) complex. This complex is the largest of the respiratory complexes and its structure is L-shaped with a long, hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm that includes all the known redox centers and the NADH binding site.

See also

• Mitochondrial disease
• Electron transport chain
• NADH dehydrogenase (ubiquinone)