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UPB1 encodes a protein that belongs to the CN hydrolase family. Additionally we are shipping UPB1 Proteins (13) and and many more products for this protein.
Showing 10 out of 23 products:
Cow (Bovine) Polyclonal UPB1 Primary Antibody for WB - ABIN2775431
van Kuilenburg, Meinsma, Beke, Assmann, Ribes, Lorente, Busch, Mayatepek, Abeling, van Cruchten, Stroomer, van Lenthe, Zoetekouw, Kulik, Hoffmann, Voit, Wevers, Rutsch, van Gennip: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. in Human molecular genetics 2004
Show all 3 Pubmed References
The c.977G>A (p.R326Q) is the most common mutation of the UPB1 gene in Chinese. The predicted incidence indicates that beta-ureidopropionase deficiency is significantly underdiagnosed in the Chinese population.
High prevalence of p.R326Q in the normal Japanese population indicates that betaUP deficiency is not as rare as generally considered
This study reports the clinical, biochemical, and molecular analysis of a newly identified patient with beta-ureidopropionase deficiency and the effect of the first synonymous mutation in UBP1 affecting pre-mRNA splicing, using the minigene approach.
analysis of UPB1 variants on 5-FU-related toxicity in the population of all analyzed patients revealed an association between the c.-80C>G (rs2070474) variant and gastrointestinal toxicity
biochemical and molecular findings of 11 newly identified ss-ureidopropionase deficient patients as well as the analysis of the mutations in a three-dimensional framework were reported.
An altered homeostasis of beta-aminoisobutyric acid and/or increased oxidative stress might contribute to some of the clinical abnormalities encountered in patients with a beta-ureidopropionase deficiency.
analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E)
cloning and characterization of rat ortholog
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.
, beta-alanine synthase
, N-carbamoyl-beta-alanine amidohydrolase
, n-carbamoyl-beta-alanine amidohydrolase