Gene: DPYD

Alternate names for this Gene: DHP|DHPDHASE|DPD

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p21.3

Description of this Gene: dihydropyrimidine dehydrogenase

Type of Gene: protein-coding

Gene: DPYD-AS1

Alternate names for this Gene:

Gene Summary:

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rs746991079 in DPYD;DPYD-AS1 gene and Dihydropyrimidine Dehydrogenase Deficiency PMID 21590448 2011 Pharmacokinetics of orally administered uracil in healthy volunteers and in DPD-deficient patients, a possible tool for screening of DPD deficiency.

rs4128473 in DPYD;DPYD-AS1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.