DPYD dihydropyrimidine dehydrogenase
Gene ID: 1806, updated on 2-Nov-2024Gene type: protein coding
Also known as: DHP; DPD; DYPD; DHPDHASE
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- Go to complete Gene record for DPYD
- Go to Variation Viewer for DPYD variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Capecitabine response MedGen: CN077963GeneReviews: Not available | not available |
| Dihydropyrimidine dehydrogenase deficiency | not available |
| Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. GeneReviews: Not available | |
| Fluoropyrimidine response MedGen: CN184090GeneReviews: Not available | not available |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available | |
| Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available | |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Tegafur response MedGen: C1852514GeneReviews: Not available | not available |
Genomic context
- Location:
- 1p21.3
- Sequence:
- Chromosome: 1; NC_000001.11 (97077743..97921059, complement)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DPYD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DPYD database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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