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:
Related Diseases:
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
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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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Update: Aug. 14, 2020