Aliases: MGC32610
Chromosome No: 11
Chromosome Band: 11p14.3
Genetic Category: Genetic association
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 7
Evidence score: null
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Relevance to Autism
In an association study (Weiss et al., 2009), TDT of the initial scan identified two SNPs in the GAS2 gene (rs12293188 and rs16910194) that showed association with ASD in the discovery stage (P=1.2E-05 and 4.2E-05, respectively); combination of case-control association analysis with TDT data resulted in P values of 1.1E-06 and 3.7E-06, respectively. However, neither SNP showed association in the replication stage. Meta-analysis of the combined cohorts yielded P-values of 3.0E-03 and 2.8E-04 for the two SNPs in the GAS2 gene.
Molecular Function
The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity.
External Links
