Aliases for UPB1 Gene
External Ids for UPB1 Gene
Previous GeneCards Identifiers for UPB1 Gene
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]
GeneCards Summary for UPB1 Gene
UPB1 (Beta-Ureidopropionase 1) is a Protein Coding gene. Diseases associated with UPB1 include Beta-Ureidopropionase Deficiency and Partial Optic Atrophy. Among its related pathways are Pyrimidine metabolism (KEGG) and Pyrimidine metabolism (REACTOME). Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and beta-ureidopropionase activity.
UniProtKB/Swiss-Prot for UPB1 Gene
Converts N-carbamoyl-beta-aminoisobutyrate and N-carbamoyl-beta-alanine (3-ureidopropanoate) to, respectively, beta-aminoisobutyrate and beta-alanine, ammonia and carbon dioxide.