Symbol: Name: ID: |
UPB1 ureidopropionase, beta GFS:5421 |
Gene name: | UPB1 |
Chromosome: | 22q11.2 |
Previous Symbols: | |
Previous Names: | |
Aliases: | BUP1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2143535 | Rat Genome Database ID: | RGD:620091 |
HGNC ID: | HGNC:16297 | RefSeq IDs: | NM_016327 |
Entrez Gene ID: | 51733 | Ensembl Gene ID: | ENSG00000100024 |
VEGA IDs: | OTTHUMG00000150749 | UniProt ID: | Q9UBR1 |
UCSC ID: | uc003aaf.2 | OMIM ID: | 606673 |
Pubmed: | PMID10542323 | ||
CCDS IDs: | CCDSCCDS13827.1 |
Beta-ureidopropionase is an enzyme that in humans is encoded by the 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].
Function: Converts N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to, respectively, beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide.
Products for UPB1 gene
Catalog | Product Name | Application | Company |
GFS:E05421 | ureidopropionase, beta; ELISA kit | ELISA | n/a |
GFS:A05421 | ureidopropionase, beta; Anti | ANTIBODIES | n/a |
GFS:P05421 | ureidopropionase, beta; Protien | Protien | n/a |