Coenzyme Q6 monooxygenase
The COQ6 gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 6, an encephalomyopathy.
Lai CH et al. (2000) Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
Heeringa SF et al. (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Update: Sept. 26, 2018