| 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],catalytic activity:5,6-dihydrouracil + NADP(+) = uracil + NADPH.,cofactor:Binds 2 4Fe-4S clusters. Contains approximately 33 iron atoms per molecule.,cofactor:Binds 2 FAD.,cofactor:Binds 2 FMN.,disease:Defects in DPYD are the cause of dihydropyrimidine dehydrogenase deficiency (DPYD deficiency) [MIM:274270], also known as hereditary thymine-uraciluria or familial pyrimidinemia. DPYD deficiency is a disease 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. This reaction includes stomatitis, Leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, and neurologic symptoms, progressing to semicoma.,function:Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.,pathway:Amino-acid biosynthesis, beta-alanine biosynthesis.,similarity:Belongs to the dihydropyrimidine dehydrogenase family.,similarity:Contains 3 4Fe-4S ferredoxin-type domains.,subunit:Homodimer.,tissue specificity:Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells., |
