Dihydropyrimidine Dehydrogenase

Alternative Names

  • DPYD
  • DPD
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OMIM Number

612779

NCBI Gene ID

1806

Uniprot ID

Q12882

Length

843,317 bases

No. of Exons

26

No. of isoforms

2

Protein Name

Dihydropyrimidine dehydrogenase [NADP(+)]

Molecular Mass

111401 Da

Amino Acid Count

1025

Genomic Location

chr1:97,077,742-97,921,058

Gene Map Locus
1p21.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000110.3:c.557A>GUnited Arab EmiratesNC_000001.11:g.97699474T>CDrug ResponseNG_008807.2:g.226586A>G; NM_000110.3:c.557A>G; NP_000101.2:p.Tyr186Cys115232898100113
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