UPB1, Official Symbol UPB1provided by HGNC Official Full Name beta-ureidopropionase 1provided by HGNC Primary source HGNC:HGNC:16297 See related Ensembl:ENSG00000100024 MIM:606673; AllianceGenome:HGNC:16297 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BUP1 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, Jul 2008] Expression Biased expression in liver (RPKM 34.8) and kidney (RPKM 13.3) See more Orthologs mouse all