DPYS siRNA – Dihydropyrimidinase (Human)

Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]

DPYS: 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. Defects in DPYS are the cause of dihydropyrimidinase deficiency (DHPD). DHPD is an autosomal recessive disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype: epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. Belongs to the DHOase family. Hydantoinase/dihydropyrimidinase subfamily.

Protein type: Nucleotide Metabolism - pyrimidine; Hydrolase; EC 3.5.2.2; Xenobiotic Metabolism - drug metabolism - other enzymes; Other Amino Acids Metabolism - beta-alanine; Cofactor and Vitamin Metabolism - pantothenate and CoA biosynthesis

Chromosomal Location of Human Ortholog: 8q22

Cellular Component: cytosol

Molecular Function: thymine binding; amino acid binding; dihydropyrimidinase activity; zinc ion binding; uracil binding; phosphoprotein binding

Biological Process: beta-alanine metabolic process; pyrimidine nucleoside catabolic process; pyrimidine base metabolic process; nucleobase, nucleoside and nucleotide metabolic process; uracil catabolic process; thymine catabolic process; pyrimidine base catabolic process; protein homotetramerization

Disease: Dihydropyrimidinase Deficiency