Entrez gene ID | | 51733 |
Official gene symbol | | UPB1 |
Full name | | ureidopropionase, beta |
Aliases | | ,BUP1, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q11.2 |
Gene position | | 24891251 - 24922553 Map Viewer |
Gene orientation | | plus |
Gene size | | 31303 bp |
Gene sequence |
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OMIM ID | | 606673 |
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