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Relevance to Autism

A SNP within the GUCY1A2 gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).

Molecular Function

Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN400R001 
 synonymous_variant 
 c.1344C>T 
 p.Ala448= 
 De novo 
  
 Simplex 
 GEN400R002 
 synonymous_variant 
 c.846C>T 
 p.Asn282%3D 
 De novo 
  
  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Deletion
 1
 
11
Duplication
 1
 
11
Deletion-Duplication
 26
 

No Animal Model Data Available

 

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