DPYS explained

Dihydropyrimidinase is an enzyme that in humans is encoded by the DPYS gene.^{[1] [2]}

Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria.

Further reading

• Thomas HR, Ezzeldin HH, Guarcello V . Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. . Pharmacogenet. Genomics . 18 . 1 . 25–35 . 2008 . 18216719 . 10.1097/FPC.0b013e3282f2f134 . 10940058 . etal.
• Thomas HR, Ezzeldin HH, Guarcello V . Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. . Pharmacogenet. Genomics . 17 . 11 . 973–87 . 2008 . 18075467 . 10.1097/FPC.0b013e3282f01788 . 23490646 . etal.
• van Kuilenburg AB, Meijer J, Dobritzsch D . Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. . Mol. Genet. Metab. . 91 . 2 . 157–64 . 2007 . 17383919 . 10.1016/j.ymgme.2007.02.008 . etal.
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network. . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 . etal.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Fukada M, Watakabe I, Yuasa-Kawada J . Molecular characterization of CRMP5, a novel member of the collapsin response mediator protein family. . J. Biol. Chem. . 275 . 48 . 37957–65 . 2001 . 10956643 . 10.1074/jbc.M003277200 . etal. free .
• Hamajima N, Kouwaki M, Vreken P . Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. . Am. J. Hum. Genet. . 63 . 3 . 717–26 . 1998 . 9718352 . 10.1086/302022 . 1377410 . etal.
• Naguib FN, el Kouni MH, Cha S . Enzymes of uracil catabolism in normal and neoplastic human tissues. . Cancer Res. . 45 . 11 Pt 1 . 5405–12 . 1985 . 3931905 .

Notes and References

1. Hamajima N, Matsuda K, Sakata S, Tamaki N, Sasaki M, Nonaka M . A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution . Gene . 180 . 1–2 . 157–63 . Jan 1997 . 8973361 . 10.1016/S0378-1119(96)00445-3 .
2. Web site: Entrez Gene: DPYS dihydropyrimidinase.