NDUFA10

NDUFA10 is a protein that in humans is encoded by the NDUFA10 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 NDUFA10 protein is a subunit of NADH dehydrogenase (ubiquinone), also known as Complex I, which is located in the mitochondrial inner membrane. Complex I is the first enzyme of the mitochondrial electron transport chain. It catalyzes the transfer of electrons from NADH to coenzyme Q10 (CoQ10) and contributes to the generation of a proton gradient across the mitochondrial membrane that is then used by ATP synthase (Complex V) to generate ATP.

Clinical significance

Mutations in the NDUFA10 gene are associated with mitochondrial complex I deficiency, which is the most common enzymatic defect of the oxidative phosphorylation disorders. Mitochondrial complex I deficiency can cause a wide range of clinical disorders, including Leigh syndrome, Leber's hereditary optic neuropathy, and Wolfram syndrome.

See also

• Mitochondrial diseases
• Oxidative phosphorylation