DPYD est un gène codé par le symbole DPYD. D'autres noms incluent: Dihydropyrimidine dehydrogenase [NADP(+)]; DHPDHase; Dihydrothymine dehydrogenase; Dihydrouracil dehydrogenase. DPYD a une masse de 111.4kDa, une longueur d'acide aminé de 1025, et est impliqué dans Dihydropyrimidine dehydrogenase deficiency.
Nous proposons 7 des anticorps contre DPYD, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.
Résumé 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.
Spécificité tissulaire
Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the dihydropyrimidine dehydrogenase family.
Localisation cellulaire
Cytoplasm.
