NDUFS4 is a subunit of Complex I in the mitochondrial electron transport chain, which is crucial for cellular energy production through oxidative phosphorylation. Complex I, or NADH:ubiquinone oxidoreductase, the first multisubunit enzyme complex of the mitochondrial respiratory chain, plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. Mutations or deficiencies in NDUFS4 can lead to a variety of clinical conditions, including Leigh syndrome, a severe neurodegenerative disorder often associated with early childhood mortality.
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