Prenyl (decaprenyl) diphosphate synthase, subunit 2
The PDSS2 gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 3, an encephalomyopathy.
Genetests:
Related Diseases:
References:
1. |
Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.
|
2. |
Saiki R et al. (2005) Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.
|
3. |
López LC et al. (2006) Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
|
4. |
Peng M et al. (2008) Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
|
5. |
OMIM.ORG article
Omim 610564
|
6. |
Orphanet article
Orphanet ID 205928
|
7. |
NCBI article
NCBI 57107
|
8. |
Wikipedia article
Wikipedia EN (PDSS2)
|
Update: Aug. 14, 2020