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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.

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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

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN509R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Deletion-Duplication
 80
  construct
22
Deletion-Duplication
 11
 
22
Duplication
 1
 
22
Deletion-Duplication
 23
 
22
Duplication
 9
 
22
Deletion-Duplication
 29
 

No Animal Model Data Available

 

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