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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for UPB1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID51733
Official gene symbolUPB1
Full nameureidopropionase, beta
Aliases,BUP1,
Gene summaryThis 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]
LocationChromosome: 22   Locus: 22q11.2
Gene position24891251 - 24922553  Map Viewer
Gene orientationplus
Gene size31303 bp
Gene sequence
OMIM ID606673