DPYD

The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Dihydropyrimidine Dehydrogenase

Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.

Beta-alanine biosynthetic process Source: UniProtKB-UniPathway
Purine nucleobase catabolic process Source: UniProtKB
Pyrimidine nucleobase catabolic process Source: UniProtKB
Thymidine catabolic process Source: UniProtKB
Thymine catabolic process Source: UniProtKB
Uracil catabolic process Source: UniProtKB

Cytoplasm

Dihydropyrimidine dehydrogenase deficiency (DPYDD):
A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil.