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Literature summary extracted from

  • Van Kuilenburg, A.B.P.; Dobritzsch, D.; Meinsma, R.; Haasjes, J.; Waterham, H.R.; Nowaczyk, M.J.M.; Maropoulos, G.D.; Hein, G.; Kalhoff, H.; Kirk, J.M.; Baaske, H.; Aukett, A.; Duley, J.A.; Ward, K.P.; Lindqvist, Y.; Van Gennip, A.H.
    Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure (2002), Biochem. J., 364, 157-163.
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
1.3.1.2 additional information PCR and sequence analysis of point mutations occurring in patients, modified cofactor binding and electron transport with exchanges: S201R, P86L, S492L, D949V, H978R, reduced activity in mutants Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.3.1.2 5-fluorouracil + NADPH + H+ Homo sapiens
-
 5-fluoro-5,6-dihydrouracil + NADP+
-
 ?
1.3.1.2 thymine + NADPH Homo sapiens
-
 dihydrothymine + NADP+
-
 ?
1.3.1.2 uracil + NADPH Homo sapiens rate limiting enzyme in pyrimidine degradation 5,6-dihydrouracil + NADP+
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.3.1.2 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.1.2 blood
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.1.2 5-fluorouracil + NADPH + H+
-
 Homo sapiens 5-fluoro-5,6-dihydrouracil + NADP+
-
 ?
1.3.1.2 thymine + NADPH
-
 Homo sapiens dihydrothymine + NADP+
-
 ?
1.3.1.2 uracil + NADPH rate limiting enzyme in pyrimidine degradation Homo sapiens 5,6-dihydrouracil + NADP+
-
 ?