Synonyms:BUP1, ENTREZ:51733, HGNC:16297, MIM:606673, NM_016327, NP_057411, UPB1, XM_011530222, XM_011530223, XM_011530224, XM_011530225, XM_017028825, XM_017028826, XM_017028827, XM_017028828, XP_011528524, XP_011528525, XP_011528526, XP_011528527, XP_016884314, XP_016884315, XP_016884316, XP_016884317, XR_001755249, XR_001755250, XR_937867, beta-ureidopropionase 1
Omim:OMIM:606673
Id:ENSG00000100024
Hgnc:HGNC:16297
Description:beta-ureidopropionase 1
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]