NDUFB10

NDUFB10 is a protein that in humans is encoded by the NDUFB10 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 NDUFB10 protein is one of about 31 hydrophobic subunits that form the transmembrane region of Complex I, but it is an accessory subunit and is not directly involved in the pathway of electron transfer. The complex 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. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of Complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane.

Clinical significance

Mutations in the NDUFB10 gene are 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. The severity of the condition can vary widely, from lethal neonatal disease to adult-onset neurodegenerative disorders. Symptoms may include hypotonia (poor muscle tone), dyskinesia (abnormal movements), bradykinesia (slow movements), ataxia (poor coordination), seizures, and intellectual disability.

See also

• Mitochondrial disease
• Leigh syndrome
• Mitochondrial myopathy