NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 (NDUFB7)

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 (NDUFB7) is a nuclear-encoded accessory subunit of mitochondrial Complex I, the largest protein complex in the electron transport chain. It localizes to the mitochondrial inner membrane and is required for the proper assembly and structural integrity of Complex I, facilitating electron transfer from NADH to ubiquinone. NDUFB7 mutations are linked to mitochondrial disease phenotypes such as lactic acidosis, cardiomyopathy, and encephalopathy, and cause defects in the formation of respiratory supercomplexes. Experimental evidence from animal models confirms its importance in brain development and mitochondrial function. Therapeutic approaches for patients with NDUFB7-related disorders have included Coenzyme Q10 and mitochondrial antioxidants, aiming to restore respiratory chain activity. Deficiency or mutations may pose significant metabolic and neurological risks due to impaired oxidative phosphorylation.

Other names

Complex I-B18CI-B18B18MGC2480Cell adhesion protein SQM1NADH-ubiquinone oxidoreductase B18 subunitMC1DN39

Coenzyme Q10: electron acceptor, aids electron transport and Complex I function. Mitoquinone mesylate: mitochondrial antioxidant, rescues defect-induced dysfunction.