DPYS
Function
Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate.
Involvement in disease
Dihydropyrimidinase deficiency
DPYSD
An autosomal recessive disorder of pyrimidine metabolism characterized by dihydropyrimidinuria. It is associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. Most patients are, however, asymptomatic.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Carboxylation allows a single lysine to coordinate two zinc ions.
Sequence Similarities
Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family.
Tissue Specificity
Liver and kidney.
Alternative names
Dihydropyrimidinase, DHP, DHPase, Dihydropyrimidine amidohydrolase, Hydantoinase, DPYS