Literature summary extracted from

van Kuilenburg, A.B.; Meijer, J.; Dobritzsch, D.; Meinsma, R.; Duran, M.; Lohkamp, B.; Zoetekouw, L.; Abeling, N.G.; van Tinteren, H.L.; Bosch, A.M.
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency (2007), Mol. Genet. Metab., 91, 157-164.

Cloned(Commentary)

EC Number	Cloned (Comment)	Organism
3.5.2.2	expressed in Escherichia coli	Homo sapiens

Protein Variants

EC Number	Protein Variants	Comment	Organism
3.5.2.2	R412M	inactive enzyme, missense mutation causing dihydropyrimidase deficiency	Homo sapiens
3.5.2.2	W360R	inactive enzyme, missense mutation causing dihydropyrimidase deficiency	Homo sapiens

Organism

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

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
3.5.2.2	5,6-dihydrothymine + H2O	-	Homo sapiens	N-carbamyl-beta-aminoisobutyrate	-	?
3.5.2.2	5,6-dihydrouracil + H2O	-	Homo sapiens	N-carbamyl-beta-alanine	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
3.5.2.2	DHP	-	Homo sapiens

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Release 2023.1 (January 2023)