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PDSS2 - Revision history
2026-04-20T22:29:31Z
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2025-03-17T21:27:02Z
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 21:27, 17 March 2025</td>
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2025-02-10T20:56:28Z
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2024-03-10T06:21:55Z
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<p><b>New page</b></p><div>'''PDSS2''' ('''P'''renyl (decaprenyl) '''D'''iphosphate '''S'''ynthase, '''S'''ubunit '''2''') is a gene that encodes a subunit of the enzyme decaprenyl diphosphate synthase. This enzyme is involved in the biosynthesis of [[coenzyme Q]], a critical component in the [[electron transport chain]] and a potent antioxidant. Mutations in this gene have been associated with [[Coenzyme Q10 deficiency]], a mitochondrial disorder, and an increased risk of [[Parkinson's disease]].<br />
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== Function ==<br />
The PDSS2 gene provides instructions for making a protein that is involved in the production of coenzyme Q10. This molecule, also known as ubiquinone, is found in the [[mitochondria]] (the energy-producing centers of cells) and is used by cells to produce energy. It also acts as an antioxidant, which means it protects cells from damage caused by unstable molecules called [[free radicals]].<br />
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== Clinical significance ==<br />
Mutations in the PDSS2 gene can lead to coenzyme Q10 deficiency. This condition can cause a variety of signs and symptoms, most of which are related to energy metabolism. These can include muscle weakness, fatigue, seizures, and intellectual disability. In some cases, coenzyme Q10 deficiency can also cause heart disease and respiratory problems.<br />
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Additionally, some studies have suggested that variations in the PDSS2 gene may be associated with an increased risk of developing Parkinson's disease. However, more research is needed to confirm these findings and understand the role of PDSS2 in this condition.<br />
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== See also ==<br />
* [[Coenzyme Q10 deficiency]]<br />
* [[Parkinson's disease]]<br />
* [[Mitochondria]]<br />
* [[Electron transport chain]]<br />
* [[Free radicals]]<br />
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== References ==<br />
<references /><br />
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[[Category:Genes]]<br />
[[Category:Metabolism]]<br />
[[Category:Neurology]]<br />
[[Category:Genetics]]<br />
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