Synonyms:DHP, DHPDHASE, DPD, DPYD, ENTREZ:1806, HGNC:3012, MIM:612779, NM_000110, NM_001160301, NP_000101, NP_001153773, XM_005270562, XM_006710397, XM_017000507, XM_017000508, XM_017000509, XM_017000510, XP_005270619, XP_006710460, XP_016855996, XP_016855997, XP_016855998, XP_016855999, XR_001737014, dihydropyrimidine dehydrogenase
Omim:OMIM:612779
Id:ENSG00000188641
Hgnc:HGNC:3012
Description:dihydropyrimidine dehydrogenase
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]