Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.


Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Coenzyme Q10 deficiency 2



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