NADH Dehydrogenase Ubiquinone 1 Alpha Subcomplex 2 (NDUFa2)

NDUFa2 is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.The flavoprotein fraction contains the NDUFV1, NDUFV2, and NDUFV3 subunits and the iron-sulfur protein (IP) fraction contains at least 7 subunits, NDUFS1-NDUFS6 and NDUFA5. The remaining subunits, including NDUFA2, are part of the hydrophobic protein (HP) fraction, which is involved in proton translocation.