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UPB1 is 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.
Gene Name: | ureidopropionase, beta |
Synonyms: | UPB1, Beta-alanine synthase, Beta-ureidopropionase, Ureidopropionase, beta, BUP-1, BUP1 |
Target Sequences: | NM_016327 NP_057411.1 Q9UBR1 |
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