Aliases:
Chromosome No: 9
Chromosome Band: 9q21.2
Genetic Category: Rare Single Gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 9
Evidence score: 0
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Relevance to Autism
This gene was identified as an ASD candidate gene following the identification of a balanced chromosomal abnormality (BCA) leading to gene disruption in an ASD case (Talkowski et al., 2012). This BCA-disrupted gene was also individually implicated by case-control CNV burden or by a minimum of 3 CNVs in neuodevelopmental disorder (NDD) cases with none in controls in a follow-up study in the same report.
Molecular Function
This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors
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