NP_001376.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
dihydropyrimidinase
NCBI Official Synonym Full Names
dihydropyrimidinase
NCBI Official Synonym Symbols
NCBI Protein Information
dihydropyrimidinase
UniProt Protein Name
Dihydropyrimidinase
UniProt Synonym Protein Names
Dihydropyrimidine amidohydrolase; Hydantoinase
UniProt Synonym Gene Names
UniProt Entry Name
DPYS_HUMAN
NCBI Summary for DPYS
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]
UniProt Comments for DPYS
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: EC 3.5.2.2; Cofactor and Vitamin Metabolism - pantothenate and CoA biosynthesis; Other Amino Acids Metabolism - beta-alanine; Nucleotide Metabolism - pyrimidine; Xenobiotic Metabolism - drug metabolism - other enzymes; Hydrolase
Chromosomal Location of Human Ortholog: 8q22
Cellular Component: cytosol
Molecular Function: thymine binding; amino acid binding; dihydropyrimidinase activity; uracil binding; zinc ion 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
Product References and Citations for anti-DPYS antibody
Kim, H.Y., et al. BMB Rep 43(8):547-553(2010) van Kuilenburg, A.B., et al. Biochim. Biophys. Acta 1802 (7-8), 639-648 (2010) : Fidlerova, J., et al. Cancer Chemother. Pharmacol. 65(4):661-669(2010) Thomas, H.R., et al. Pharmacogenet. Genomics 18(1):25-35(2008) Thomas, H.R., et al. Pharmacogenet. Genomics 17(11):973-987(2007)
Research Articles on DPYS
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Products associated with anti-DPYS antibody
Diseases associated with anti-DPYS antibody
Organs/Tissues associated with anti-DPYS antibody
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