Gene Symbol | DPYD |
Entrez Gene ID | 1806 |
Full Name | dihydropyrimidine dehydrogenase |
Synonyms | DHP,DHPDHASE,DPD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Dihydropyrimidine dehydrogenase deficiency, 274270 (3); 5-fluorouracil toxicity, 274270 (3) |