DPYD - Dihydropyrimidine dehydrogenase [NADP(+)] - human protein (Medical)
 
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DPYD »  Dihydropyrimidine dehydrogenase [NADP(+)]   [ EC 1.3.1.2 ]  (DPD)
 
Protein also known as:  Dihydrothymine dehydrogenase.
Gene name:  DPYD
Entry whose protein(s) existence is based on evidence at protein level
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1 131 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270]: A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
1p21.3 microdeletion syndrome  293948  
5-fluorouracil toxicity  240839  
Capecitabine toxicity  240855  
Dihydropyrimidine dehydrogenase deficiency  1675  
Susceptibility to adverse reaction due to 5-fluorouracil treatment  240955  
Susceptibility to adverse reaction due to capecitabine treatment  240963  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drugs:
Capecitabine  DB01101  
Enfuvirtide  DB00109  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 1806
MIM: 274270
PharmGKB: PA145
Polymorphism databases
DMDM: 160332325
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.