NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
DPYD: Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil. Homodimer. Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells. Belongs to the dihydropyrimidine dehydrogenase family.
Protein type: Other Amino Acids Metabolism - beta-alanine; Oxidoreductase; Xenobiotic Metabolism - drug metabolism - other enzymes; Nucleotide Metabolism - pyrimidine; EC 1.3.1.2; Cofactor and Vitamin Metabolism - pantothenate and CoA biosynthesis
Chromosomal Location of Human Ortholog: 1p22
Cellular Component: cytoplasm; cytosol
Molecular Function: protein homodimerization activity; FAD binding; metal ion binding; dihydroorotate dehydrogenase activity; 4 iron, 4 sulfur cluster binding; dihydropyrimidine dehydrogenase (NADP+) activity; NADP binding
Biological Process: pyrimidine nucleoside catabolic process; pyrimidine base metabolic process; nucleobase, nucleoside and nucleotide metabolic process; UMP biosynthetic process; uracil catabolic process; thymine catabolic process; beta-alanine biosynthetic process; purine base catabolic process; pyrimidine base catabolic process; thymidine catabolic process
Disease: Dihydropyrimidine Dehydrogenase Deficiency