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MRXSW

Chr XXLR

glutamate ionotropic receptor AMPA type subunit 3

Also known as: GLUR-C, GLUR-K3, GLUR3, GLURC, GluA3, MRX94, MRXSW, iGluR3

NCBI Gene: 2892 OMIM: 300699

The protein is an AMPA-sensitive glutamate receptor subunit that forms ligand-gated ion channels for excitatory neurotransmission in the brain. Mutations cause X-linked syndromic intellectual developmental disorder (Wu type). This follows X-linked recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM

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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…