Entrez Summary: This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016].
UniProt Summary: Important modulator of glutamate signaling pathway. {ECO:0000269|PubMed:27236917}.
Pfam DomainsGO Terms
Pfam Domains
DOMON
GO Terms
regulation of postsynaptic membrane neurotransmitter receptor levels
regulation of glutamate receptor signaling pathway
synapse
cellular component
cell junction
molecular function
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)