C8orf38 Activators

NADH:ubiquinone oxidoreductase complex assembly factor 6 (NDUFAF6) is an essential chaperone protein involved in the mitochondrial respiratory chain, specifically in the assembly of Complex I, also known as NADH:ubiquinone oxidoreductase. This complex is the largest and first enzyme in the mitochondrial electron transport chain (ETC), which plays a critical role in cellular energy production through oxidative phosphorylation.

NDUFAF6 functions as an assembly factor, meaning it assists in the proper assembly and stabilization of Complex I. It does not form a permanent part of the structure but is rather involved transiently during the assembly process. The proper assembly of Complex I is a highly orchestrated event requiring the interaction of about 45 subunits along with several assembly factors like NDUFAF6. It ensures that the enzyme complex is correctly formed and can efficiently carry out its role in the ETC, which involves the transfer of electrons from NADH to ubiquinone, coupled with the translocation of protons across the inner mitochondrial membrane. This process ultimately contributes to the generation of a proton gradient that drives ATP synthesis, the primary energy currency of the cell. Mutations in the gene encoding NDUFAF6 can result in mitochondrial disorders due to defective Complex I assembly, leading to a broad spectrum of manifestations ranging from neurological disorders to muscle weakness. The study of NDUFAF6 and its interactions within the mitochondrion is crucial for understanding the pathogenesis of these mitochondrial diseases.