Prenyl (decaprenyl) diphosphate synthase, subunit 1
The PDSS1 gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 2, an encephalomyopathy.
Rötig A et al. (2000) Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
Crane FL et al. (2001) Biochemical functions of coenzyme Q10.
Saiki R et al. (2005) Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.
Mollet J et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
Update: Sept. 26, 2018