UPB1
Homo sapiens
Gene Name: beta-ureidopropionase 1
Aliases: BUP1
Chromosome No: 22
Chromosome Band: 22q11.23
Genetic Category: Rare single gene variant-Syndromic
Aliases: BUP1
Chromosome No: 22
Chromosome Band: 22q11.23
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A maternally-inherited deletion disrupting two exons of the UPB1 gene was identified in a male ASD patient and an unaffected female sibling; this deletion was not observed in 5139 controls (Prasad et al., 2012).
Molecular Function
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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
