NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 12 (NDUFA12)

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 12 (NDUFA12) is a nuclear-encoded accessory subunit of mitochondrial Complex I, the largest enzyme complex of the mitochondrial electron transport chain[1][2][3]. While not part of the catalytic core, NDUFA12 is essential for the assembly, stability, and function of Complex I, enabling the transfer of electrons from NADH to ubiquinone and proton translocation across the mitochondrial inner membrane[1][2][3]. Alterations or mutations in NDUFA12 are associated with mitochondrial complex I deficiency, leading to clinical phenotypes including Leigh syndrome, a severe neurodegenerative disorder[1][2][3]. NDUFA12 loss disrupts mitochondrial structure and function, illustrating its crucial role in energy metabolism and cellular homeostasis. Key points are based on authoritative gene function summaries and clinical genetics resources[1][2][3]. - [1]: NDUFA12 is not an enzymatic subunit but is required for Complex I stability and assembly. - [2]: Mutations in NDUFA12 can result in isolated Complex I deficiency, presenting as Leigh syndrome and other mitochondrial encephalopathies. - [3]: It plays no direct catalytic role but is indispensable for Complex I biogenesis and electron transport chain integrity. No drugs are currently known to directly target NDUFA12, but defects can act as biomarkers for diagnosis of mitochondrial diseases[1][2][3].

Other names

B17.2DAP13MC1DN23NADH:ubiquinone oxidoreductase subunit A1213 kDa differentiation-associated proteinComplex I-B17.2complex I B17.2 subunit