GRIA4

Chr 11

glutamate ionotropic receptor AMPA type subunit 4

Also known as: GLUR4, GLUR4C, GLURD, GluA4, GluA4-ATD, NEDSGA

NCBI Gene: 2893 ENSG00000152578 UniProt: P48058

The protein is a subunit of AMPA-sensitive glutamate receptors that form ligand-gated ion channels mediating excitatory neurotransmission in the brain. De novo mutations cause autosomal dominant neurodevelopmental disorder with or without seizures and gait abnormalities. The pathogenic mechanism involves dominant-negative effects from the mutant protein.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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 of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with or without seizures and gait abnormalities

Clinical highlights

Gene-disease validity (ClinGen)

neurodevelopmental disorder with or without seizures and gait abnormalities · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.43

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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