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Gene : UPB1 Homo sapiens

Name  ? beta-ureidopropionase 1 Cytological Location  22q11.23
Brief Description  beta-ureidopropionase 1
description  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]
  • synonyms:
  • BUP1,
  • uc003aaf.4,
  • HGNC:16297,
  • AB013885,
  • ureidopropionase, beta,
  • BUP1,
  • NM_016327,
  • OTTHUMG00000150749,
  • UPB1
  • identifiers:
  • 51733,
  • ENSG00000100024,
  • UPB1

Genome feature

Region: gene ? Length: 33622  
Location: 22:24495060-24528681 Cyto location: 22q11.23


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results