
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions โ written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
DPYS
Introduction
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.[2]
Interactive pathway map
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.[ยง 1]
- โ The interactive pathway map can be edited at WikiPathways: “FluoropyrimidineActivity_WP1601”.
References
References
- โ Hamajima N, Matsuda K, Sakata S, Tamaki N, Sasaki M, Nonaka M (Jan 1997). “A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution”. Gene. 180 (1โ2): 157โ63. doi:10.1016/S0378-1119(96)00445-3. PMIDย 8973361.
- โ 2.0 2.1 “Entrez Gene: DPYS dihydropyrimidinase”.
Further reading
Further reading
- Thomas HR, Ezzeldin HH, Guarcello V, et al. (2008). “Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism”. Pharmacogenet. Genomics. 18 (1): 25โ35. doi:10.1097/FPC.0b013e3282f2f134. PMIDย 18216719.
- Thomas HR, Ezzeldin HH, Guarcello V, et al. (2008). “Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism”. Pharmacogenet. Genomics. 17 (11): 973โ87. doi:10.1097/FPC.0b013e3282f01788. PMIDย 18075467.
- van Kuilenburg AB, Meijer J, Dobritzsch D, et al. (2007). “Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency”. Mol. Genet. Metab. 91 (2): 157โ64. doi:10.1016/j.ymgme.2007.02.008. PMIDย 17383919.
- Rual JF, Venkatesan K, Hao T, et al. (2005). “Towards a proteome-scale map of the human protein-protein interaction network”. Nature. 437 (7062): 1173โ8. doi:10.1038/nature04209. PMIDย 16189514.
- 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): 2121โ7. doi:10.1101/gr.2596504. PMCย 528928. PMIDย 15489334.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). “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): 16899โ903. doi:10.1073/pnas.242603899. PMCย 139241. PMIDย 12477932.
- Fukada M, Watakabe I, Yuasa-Kawada J, et al. (2001). “Molecular characterization of CRMP5, a novel member of the collapsin response mediator protein family”. J. Biol. Chem. 275 (48): 37957โ65. doi:10.1074/jbc.M003277200. PMIDย 10956643.
- Hamajima N, Kouwaki M, Vreken P, et al. (1998). “Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene”. Am. J. Hum. Genet. 63 (3): 717โ26. doi:10.1086/302022. PMCย 1377410. PMIDย 9718352.
- Naguib FN, el Kouni MH, Cha S (1985). “Enzymes of uracil catabolism in normal and neoplastic human tissues”. Cancer Res. 45 (11 Pt 1): 5405โ12. PMIDย 3931905.
