UPB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | UPB1, BUP1, beta-ureidopropionase 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606673; MGI: 2143535; HomoloGene: 9471; GeneCards: UPB1; OMA:UPB1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Beta-ureidopropionase is an enzyme that in humans is encoded by the UPB1 gene.[5][6]
This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity.[6]
Click on genes, proteins and metabolites below to link to respective articles.[§ 1]
|alt=Fluorouracil (5-FU) Activity edit]] Fluorouracil (5-FU) Activity edit
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Purine metabolism |
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Pyrimidine metabolism |
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Deoxyribonucleotides |
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This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it. |