NDUFS8

NDUFS8 is a protein that in humans is encoded by the NDUFS8 gene. It is a subunit of NADH:ubiquinone oxidoreductase, also known as Complex I, which is located in the mitochondrial inner membrane. Complex I is the first enzyme of the mitochondrial respiratory chain that catalyzes the transfer of electrons from NADH to coenzyme Q10 (CoQ10) and contributes to a proton gradient across the inner membrane that is used for ATP synthesis.

Function

The NDUFS8 protein is one of about 45 subunits that make up Complex I. This protein is located in the mitochondrial matrix and has a role in the assembly of the enzyme complex. Mutations in the NDUFS8 gene can lead to mitochondrial complex I deficiency, which can cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the nervous system and the heart.

Clinical significance

Mutations in the NDUFS8 gene are associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure.

See also

• Mitochondrial disease
• Leigh syndrome
• Mitochondrial complex I deficiency