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Reviewed November 2011

What is the official name of the DPYD gene?

The official name of this gene is “dihydropyrimidine dehydrogenase.”

DPYD is the gene's official symbol. The DPYD gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the DPYD gene?

The DPYD gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine when they are not needed. Uracil and thymine are pyrimidines, which are one type of nucleotide. Nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.

Dihydropyrimidine dehydrogenase is involved in the first step of the breakdown of pyrimidines. This enzyme converts uracil to another molecule called 5,6-dihydrouracil and converts thymine to 5,6-dihydrothymine. The molecules created when pyrimidines are broken down are excreted by the body or used in other cellular processes.

How are changes in the DPYD gene related to health conditions?

dihydropyrimidine dehydrogenase deficiency - caused by mutations in the DPYD gene

More than 50 mutations in the DPYD gene have been identified in people with dihydropyrimidine dehydrogenase deficiency. DPYD gene mutations interfere with the breakdown of uracil and thymine and result in excess quantities of these molecules in the blood, urine, and the fluid that surrounds the brain and spinal cord (cerebrospinal fluid). It is unclear how the excess uracil and thymine are related to the specific neurological problems that affect some people with dihydropyrimidine dehydrogenase deficiency.

Mutations in the DPYD gene also interfere with the breakdown of drugs with structures similar to the pyrimidines, such as the cancer drugs 5-fluorouracil and capecitabine. As a result, these drugs accumulate in the body and cause the severe reactions that can occur in people with dihydropyrimidine dehydrogenase deficiency.

Where is the DPYD gene located?

Cytogenetic Location: 1p22

Molecular Location on chromosome 1: base pairs 97,077,743 to 97,921,059

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The DPYD gene is located on the short (p) arm of chromosome 1 at position 22.

The DPYD gene is located on the short (p) arm of chromosome 1 at position 22.

More precisely, the DPYD gene is located from base pair 97,077,743 to base pair 97,921,059 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DPYD?

You and your healthcare professional may find the following resources about DPYD helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DPYD gene or gene products?

  • DHP
  • dihydropyrimidine dehydrogenase [NADP+]
  • dihydrothymine dehydrogenase
  • dihydrouracil dehydrogenase
  • DPD
  • MGC132008
  • MGC70799

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding DPYD?

ATP ; biomarker ; breakdown ; cancer ; cell ; deficiency ; dehydrogenase ; DNA ; enzyme ; gene ; GTP ; molecule ; neurological ; nucleotide ; pharmacogenetics ; pyrimidines ; RNA ; thymine ; uracil

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: November 2011
Published: February 8, 2016