UPB1

Ureidopropionase, beta, also known as UPB1, is a human gene.cite web | title = Entrez Gene: UPB1 ureidopropionase, beta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51733| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: UPB1 ureidopropionase, beta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51733| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Thomas HR, Ezzeldin HH, Guarcello V, "et al." |title=Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. |journal=Pharmacogenet. Genomics |volume=18 |issue= 1 |pages= 25-35 |year= 2008 |pmid= 18216719 |doi= 10.1097/FPC.0b013e3282f2f134
*cite journal | author=Thomas HR, Ezzeldin HH, Guarcello V, "et al." |title=Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. |journal=Pharmacogenet. Genomics |volume=17 |issue= 11 |pages= 973-87 |year= 2008 |pmid= 18075467 |doi= 10.1097/FPC.0b013e3282f01788
*cite journal | author=van Kuilenburg AB, Meinsma R, Assman B, "et al." |title=Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. |journal=Nucleosides Nucleotides Nucleic Acids |volume=25 |issue= 9-11 |pages= 1093-8 |year= 2007 |pmid= 17065070 |doi= 10.1080/15257770600956870
*cite journal | author=Collins JE, Wright CL, Edwards CA, "et al." |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84
*cite journal | author=van Kuilenburg AB, Meinsma R, Beke E, "et al." |title=beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. |journal=Hum. Mol. Genet. |volume=13 |issue= 22 |pages= 2793-801 |year= 2006 |pmid= 15385443 |doi= 10.1093/hmg/ddh303
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Sakamoto T, Sakata SF, Matsuda K, "et al." |title=Expression and properties of human liver beta-ureidopropionase. |journal=J. Nutr. Sci. Vitaminol. |volume=47 |issue= 2 |pages= 132-8 |year= 2002 |pmid= 11508704 |doi=
*cite journal | author=Vreken P, van Kuilenburg AB, Hamajima N, "et al." |title=cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase. |journal=Biochim. Biophys. Acta |volume=1447 |issue= 2-3 |pages= 251-7 |year= 1999 |pmid= 10542323 |doi=
*cite journal | author=Naguib FN, el Kouni MH, Cha S |title=Enzymes of uracil catabolism in normal and neoplastic human tissues. |journal=Cancer Res. |volume=45 |issue= 11 Pt 1 |pages= 5405-12 |year= 1985 |pmid= 3931905 |doi=

PBB_Controls
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