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.

Genetests:

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

Related Diseases:

Coenzyme Q10 deficiency 2
PDSS1

References:

1.

Saiki R et al. (2005) Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.

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2.

Mollet J et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

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3.

Rötig A et al. (2000) Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.

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4.

None (2001) Biochemical functions of coenzyme Q10.

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5.

NCBI article

NCBI 23590 [^]
6.

OMIM.ORG article

Omim 607429 [^]
7.

Orphanet article

Orphanet ID 252458 [^]
8.

Wikipedia article

Wikipedia EN (PDSS1) [^]
Update: April 29, 2019