C8orf38 Inhibitors

NADH:ubiquinone oxidoreductase complex assembly factor 6, also known by the gene name NDUFAF6, is a chaperone protein implicated in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex, known as complex I. This complex is the largest and the first enzyme of the mitochondrial respiratory chain, which plays a central role in cellular energy production through oxidative phosphorylation.

Complex I consists of over 40 different subunits and has the fundamental task of transferring electrons from NADH to ubiquinone, coupled with the translocation of protons across the mitochondrial inner membrane. This process is pivotal for the generation of a proton gradient, which drives the synthesis of ATP by ATP synthase. Proper assembly and function of complex I are crucial for efficient energy production and cellular metabolism.The role of NDUFAF6 is to ensure the correct assembly and integration of the numerous subunits into a functional complex I. It acts as an assembly factor, a type of protein that assists in the folding and assembly of other protein complexes, but is not a part of the final functional complex. Mutations in the NDUFAF6 gene can disrupt the assembly of complex I and lead to mitochondrial diseases, typically presenting as mitochondrial encephalomyopathies.