8.A.182. The Mitochondrial Cytochrome c Oxidase Assembly Protein, COX20 (COX20) Family
Cox20 is essential for the assembly of the mitochondrial respiratory chain complex IV (cytochrome c oxidase (Szklarczyk et al. 2013). It acts as a chaperone in the early steps of cytochrome c oxidase subunit II maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitate the incorporation of the mature MT-CO2/COX2 into the assembling holoenzyme (Bourens et al. 2014). Bi-allelic loss of function variants in COX20 gene causes autosomal recessive sensory neuronopathy (Dong et al. 2021).