DPYD è un gene codificato dal simbolo DPYD. Altri nomi includono: Dihydropyrimidine dehydrogenase [NADP(+)]; DHPDHase; Dihydrothymine dehydrogenase; Dihydrouracil dehydrogenase. DPYD ha una massa di 111.4kDa, una lunghezza di amminoacidi di 1025, ed è implicato in Dihydropyrimidine dehydrogenase deficiency.
Offriamo 7 anticorpi contro DPYD, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.
Sommario di Entrez
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.
Specificità del tessuto
Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the dihydropyrimidine dehydrogenase family.
Posizione cellulare
Cytoplasm.
