PDSS2

PDSS2 (Prenyl (decaprenyl) Diphosphate Synthase, Subunit 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.

Function

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.

Clinical significance

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.

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.

See also

• Coenzyme Q10 deficiency
• Parkinson's disease
• Mitochondria
• Electron transport chain
• Free radicals

References

‎

---

Translate: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, தமிழ், తెలుగు, Urdu, ಕನ್ನಡ, Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, বাংলা
European español, Deutsch, français, Greek, português do Brasil, polski, română, русский, Nederlands, norsk, svenska, suomi, Italian
Middle Eastern & African عربى, Turkish, Persian, Hebrew, Afrikaans, isiZulu, Kiswahili,
Other Bulgarian, Hungarian, Czech, Swedish, മലയാളം, मराठी, ਪੰਜਾਬੀ, ગુજરાતી, Portuguese, Ukrainian