Protein-coding gene in the species Homo sapiens
Decaprenyl-diphosphate synthase subunit 2 (PDSS2) is a protein that in humans is encoded by the PDSS2 gene .[ 5]
Function
The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone , one of the key elements in the respiratory chain . The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis.[ 5]
Clinical significance
It may be associated with Coenzyme Q10 deficiency .[ 6]
See also
References
Further reading
Talmud PJ, Drenos F, Shah S, et al. (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip" . Am. J. Hum. Genet . 85 (5): 628–42. doi :10.1016/j.ajhg.2009.10.014 . PMC 2775832 . PMID 19913121 .
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6" . Nature . 425 (6960): 805–11. Bibcode :2003Natur.425..805M . doi :10.1038/nature02055 . PMID 14574404 .
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, et al. (2007). "COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement" . J. Am. Soc. Nephrol . 18 (10): 2773–80. doi :10.1681/ASN.2006080833 . PMID 17855635 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 . PMID 15489334 .
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene . 138 (1–2): 171–4. doi :10.1016/0378-1119(94)90802-8 . PMID 8125298 .
Cui TZ, Kaino T, Kawamukai M (2010). "A subunit of decaprenyl diphosphate synthase stabilizes octaprenyl diphosphate synthase in Escherichia coli by forming a high-molecular weight complex" . FEBS Lett . 584 (4): 652–6. doi :10.1016/j.febslet.2009.12.029 . PMID 20051244 . S2CID 41737114 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
Saiki R, Nagata A, Kainou T, et al. (2005). "Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans" . FEBS J . 272 (21): 5606–22. doi :10.1111/j.1742-4658.2005.04956.x . PMID 16262699 . S2CID 13735213 .
Machuca E, Benoit G, Nevo F, et al. (2010). "Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome" . J. Am. Soc. Nephrol . 21 (7): 1209–17. doi :10.1681/ASN.2009121309 . PMC 3152225 . PMID 20507940 .
Chen P, Zhao SH, Chu YL, et al. (2009). "Anticancer activity of PDSS2, prenyl diphosphate synthase, subunit 2, in gastric cancer tissue and the SGC7901 cell line". Anticancer Drugs . 20 (2): 141–8. doi :10.1097/CAD.0b013e32832016a9 . PMID 19209031 . S2CID 19932575 .
Hendrickson SL, Lautenberger JA, Chinn LW, et al. (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression" . PLOS ONE . 5 (9): e12862. Bibcode :2010PLoSO...512862H . doi :10.1371/journal.pone.0012862 . PMC 2943476 . PMID 20877624 .
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene . 200 (1–2): 149–56. doi :10.1016/S0378-1119(97)00411-3 . PMID 9373149 .
Vieira AR, McHenry TG, Daack-Hirsch S, et al. (2008). "Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts" . Genet. Med . 10 (9): 668–74. doi :10.1097/GIM.0b013e3181833793 . PMC 2734954 . PMID 18978678 .
Bailey SD, Xie C, Do R, et al. (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study" . Diabetes Care . 33 (10): 2250–3. doi :10.2337/dc10-0452 . PMC 2945168 . PMID 20628086 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
Activity Regulation Classification Kinetics Types