DPYD ist ein Gen, das durch das Symbol DPYD kodiert wird. Andere Namen sind: Dihydropyrimidine dehydrogenase [NADP(+)]; DHPDHase; Dihydrothymine dehydrogenase; Dihydrouracil dehydrogenase. DPYD hat eine Masse von 111.4kDa, eine Aminosäurelänge von 1025, und ist an Dihydropyrimidine dehydrogenase deficiency beteiligt.
Wir bieten 7 antikörper gegen DPYD, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.
Entrez Zusammenfassung
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.
Gewebespezifität
Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.
Rolle bei Krankheiten
Dihydropyrimidine dehydrogenase deficiency: 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.
Sequenzähnlichkeiten
Belongs to the dihydropyrimidine dehydrogenase family.
