NDUFAF2 Human

NDUFAF2 acts as a molecular chaperone, facilitating the assembly of mitochondrial complex I . Complex I, also known as NADH:ubiquinone oxidoreductase, is the first enzyme in the mitochondrial electron transport chain. It catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q10), which is then reduced to ubiquinol . This process is essential for the production of ATP, the primary energy currency of the cell.

The reaction catalyzed by complex I can be summarized as follows:

$$\text{NADH} + \text{H}^+ + \text{CoQ} + 4\text{H}^+_{\text{in}} \rightarrow \text{NAD}^+ + \text{CoQH}_2 + 4\text{H}^+_{\text{out}}$$

In this process, complex I translocates four protons across the inner mitochondrial membrane per molecule of oxidized NADH, helping to build the electrochemical potential difference used to produce ATP .

NDUFAF2 is involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) . This protein is essential for the normal functioning of cells, and mutations in its subunits can lead to a wide range of inherited neuromuscular and metabolic disorders . Defects in this enzyme are responsible for the development of several pathological processes, including ischemia/reperfusion damage (stroke and cardiac infarction), Parkinson’s disease, and other neurodegenerative disorders .

Mutations in the NDUFAF2 gene can cause mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) . This condition is characterized by defective oxidative phosphorylation, which affects the production of ATP. Clinical manifestations of mitochondrial complex I deficiency can vary widely, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders . Symptoms may include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson’s disease .

Understanding the function and mechanism of NDUFAF2 is crucial for developing therapeutic strategies for diseases associated with mitochondrial dysfunction. Research on NDUFAF2 and its role in mitochondrial complex I assembly may lead to the development of targeted therapies for conditions such as Parkinson’s disease and other mitochondrial disorders .

In conclusion, NADH Dehydrogenase 1 Alpha Subcomplex, Assembly Factor 2 (Human Recombinant) is a vital protein involved in the assembly and function of mitochondrial complex I. Its role in electron transport and ATP production underscores its importance in cellular energy metabolism and its potential as a therapeutic target for mitochondrial diseases.