Aliases for DPYD Gene
External Ids for DPYD Gene
Previous GeneCards Identifiers for DPYD Gene
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]
GeneCards Summary for DPYD Gene
DPYD (Dihydropyrimidine Dehydrogenase) is a Protein Coding gene. Diseases associated with DPYD include Dihydropyrimidine Dehydrogenase Deficiency and Macroglossia. Among its related pathways are Beta-alanine metabolism (TR) and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and flavin adenine dinucleotide binding. An important paralog of this gene is DHODH.
UniProtKB/Swiss-Prot Summary for DPYD Gene
Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.