Dihydropyrimidine dehydrogenase [NADP(+)]

Function

Involved in pyrimidine base degradation (PubMed:1512248). Catalyzes the reduction of uracil and thymine (PubMed:1512248). Also involved the degradation of the chemotherapeutic drug 5-fluorouracil (PubMed:1512248).

Involvement in disease

Dihydropyrimidine dehydrogenase deficiency

DPYDD

A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and intellectual disability. 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Pathway

Amino-acid biosynthesis; beta-alanine biosynthesis.

Sequence Similarities

Belongs to the dihydropyrimidine dehydrogenase family.

Tissue Specificity

Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.

Cellular localization

• Cytoplasm

Alternative names

Dihydropyrimidine dehydrogenase [NADP(+)], DHPDHase, DPD, Dihydrothymine dehydrogenase, Dihydrouracil dehydrogenase, DPYD

Database links

swissprot:Q12882 omim:274270 omim:612779 genbank:AAH08379 entrezGene:1806