Literature summary for 1.3.1.2 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.

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Protein Variants

Protein Variants	Comment	Organism
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)

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Substrates and Products (Substrate)

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

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Release 2023.1 (January 2023)