Entity Details

Primary name DPYS
Entity type gene
Source Source Link

Details

PrimaryID1807
RefseqGeneNG_008840
SymbolDPYS
Namedihydropyrimidinase
Chromosome8
Location8q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDPYS_HUMAN

GO terms

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GOName
GO:0002058 uracil binding
GO:0002059 thymine binding
GO:0004157 dihydropyrimidinase activity
GO:0005829 cytosol
GO:0006208 pyrimidine nucleobase catabolic process
GO:0006210 thymine catabolic process
GO:0006212 uracil catabolic process
GO:0006248 CMP catabolic process
GO:0006249 dCMP catabolic process
GO:0008270 zinc ion binding
GO:0016597 amino acid binding
GO:0019482 beta-alanine metabolic process
GO:0032991 protein-containing complex
GO:0042802 identical protein binding
GO:0046050 UMP catabolic process
GO:0046079 dUMP catabolic process
GO:0046135 pyrimidine nucleoside catabolic process
GO:0051219 phosphoprotein binding
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
222748 OMIMDihydropyrimidinase 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. The disease is caused by variants affecting the gene represented in this entry.