Gene: GRIA3

Alternate names for this Gene: GLUR-C|GLUR-K3|GLUR3|GLURC|GluA3|MRX94|MRXSW

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq25

Description of this Gene: glutamate ionotropic receptor AMPA type subunit 3

Type of Gene: protein-coding

rs1057521721 in GRIA3 gene and Gross motor development delay PMID 29016847 2017 A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

rs1057521721 in GRIA3 gene and Profound global developmental delay PMID 29016847 2017 A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

rs1057521721 in GRIA3 gene and Severe intellectual disability PMID 29016847 2017 A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

rs1057521721 in GRIA3 gene and Sleep disturbances PMID 29016847 2017 A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.