Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The PDSS1 gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 2, an encephalomyopathy.
| 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 |
| 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
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| 6. |
OMIM.ORG article Omim 607429
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| 7. |
Orphanet article Orphanet ID 252458
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| 8. |
Wikipedia article Wikipedia EN (PDSS1)
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