DPYD, Official Symbol DPYDprovided by HGNC Official Full Name dihydropyrimidine dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:3012 See related Ensembl:ENSG00000188641 MIM:612779; AllianceGenome:HGNC:3012 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DHP; DPD; DYPD; DHPDHASE Summary 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] Expression Ubiquitous expression in gall bladder (RPKM 9.2), lung (RPKM 8.2) and 25 other tissues See more Orthologs mouse all