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Center for Nephrology and Metabolic Disorders
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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.

external link
2.

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

external link
3.

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

external link
4.

None (2001) Biochemical functions of coenzyme Q10.

external link
5.

NCBI article

NCBI 23590 external link
6.

OMIM.ORG article

Omim 607429 external link
7.

Orphanet article

Orphanet ID 252458 external link
8.

Wikipedia article

Wikipedia EN (PDSS1) external link
Update: Aug. 14, 2020
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