C6ORF118

The protein encoded by this gene functions as a component of the mitochondrial respiratory chain complex I, participating in cellular energy production through oxidative phosphorylation. Mutations cause autosomal recessive mitochondrial complex I deficiency, presenting with early-onset neurodegeneration, developmental delay, and multi-system involvement including cardiac and hepatic dysfunction. This gene shows very low constraint against loss-of-function variants in the general population.