Version 2.78

Description

The DPYD gene (dihydropyrimidine dehydrogenase) [HGNC Gene ID:3012] is located on chromosome 1 at position p22. 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] [NCBI Gene ID:1806] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
DPYD gene
Part Display Name
DPYD gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2006-04-28
Construct for LOINC Short Name
DPYD gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP36885-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP36885-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) DPYD 基因
Synonyms: DHP;DHPDHase;DPD;二氢嘧啶脱氢酶基因;二氢尿嘧啶脱氢酶基因;二氢胸腺嘧啶脱氢酶基因
et-EE Estonian (Estonia) DPYD geen
es-ES Spanish (Spain) Gen DPYD
it-IT Italian (Italy) DPYD, gene
Synonyms: Gene DPYD
tr-TR Turkish (Turkey) DPYD geni
ru-RU Russian (Russian Federation) DPYD ген
nl-NL Dutch (Netherlands) DPYD-gen
Synonyms: DPYD gen