Full name: beta-ureidopropionase 1

Gene type: protein coding

RefSeq status: REVIEWED

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)

Gene size: 33059bp

Exon count: 13