Aliases: GLUR-C, GLUR-K3, GLUR3, GLURC, GluA3, MRX94, MRXSW
Chromosome No: X
Chromosome Band: Xq25
Genetic Category: Syndromic-Rare single gene variant-Functional-Rare single gene variant/Genetic association/Functional-Syndromic/Functional
ASD Reports: 16
Recent Reports: 2
Annotated variants: 45
Associated CNVs: 10
Evidence score: 3
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Relevance to Autism
Mutations in the GRIA3 gene are responsible for Wu-type X-linked syndromic intellectual developmental disorder (MRXSW; OMIM 300699); autistic behavior has been observed in a subset of individuals with GRIA3 variants (Wu et al., 2007; Chiyonobu et al., 2007; Guilmatre et al., 2009; Philips et al., 2014). Roy et al., 2021 found that GRIA3 exhibited high expression in the anterodorsal thalamus (AD) of mice, and that knockdown of this gene in AD thalamus resulted in memory deficits similar to those observed in AD thalamus-specific PTCHD1 knock-down mice.
Molecular Function
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties.
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