DPYD
| is a | gene |
| is | mentioned by |
| Full name | dihydropyrimidine dehydrogenase |
| EntrezGene | 1806 |
| PheGenI | 1806 |
| VariationViewer | 1806 |
| ClinVar | DPYD |
| GeneCards | DPYD |
| dbSNP | 1806 |
| Diseases | DPYD |
| SADR | 1806 |
| HugeNav | 1806 |
| wikipedia | DPYD |
| DPYD | |
| gopubmed | DPYD |
| EVS | DPYD |
| HEFalMp | DPYD |
| MyGene2 | DPYD |
| 23andMe | DPYD |
| UniProt | Q12882 |
| Ensembl | ENSG00000188641 |
| OMIM | 612779 |
| # SNPs | 78 |
The Dihydropyrimidine dehydrogenase DPYD gene encodes the enzyme of that same name, a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. SNPs leading to deficiency of this enzyme result in an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients undergoing chemotherapy using fluoropyrimidines such as 5-fluorouracil. Wikipedia
Mutations in the DPYD gene that result in a nonfunctional allele and therefore influence chemotherapeutic toxicity include:
- rs55886062(C), the DPYD*13 allele
- rs3918290(A), DPYD*2A
- rs67376798(A), as defined on the plus strand
Carriers of one nonfunctional allele are considered intermediate metabolizers; carriers of two nonfunctional alleles are poor metabolizers. These diplotypes are tested by genosets gs313, gs312 and gs306, representing the predicted presence of 0, 1 or 2 nonfunctional alleles, respectively.
Note that SNPs in several other genes may influence chemotherapeutic toxicity, including the TYMS gene, which encodes the enzyme that is the primary target of 5-fluorouracil.
