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UPB1 encodes a protein that belongs to the CN hydrolase family. Zusätzlich bieten wir Ihnen UPB1 Antikörper (20) und UPB1 Proteine (11) und viele weitere Produktgruppen zu diesem Protein an.
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.
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
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 (zeige SUCLA2 ELISA Kits)-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)
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