The grin1 gene encodes an NMDA-type glutamate receptor subunit that forms a ligand-gated ion channel permeable to calcium ions, functioning as a postsynaptic membrane-bound receptor involved in synapti...[+]

The grin1 gene encodes an NMDA-type glutamate receptor subunit that forms a ligand-gated ion channel permeable to calcium ions, functioning as a postsynaptic membrane-bound receptor involved in synaptic transmission and plasticity within the central nervous system. Its expression is localized to neurons in the telencephalon, diencephalon, mesencephalon, rhombencephalon, spinal cord, retina, and olfactory bulb. The protein is integral to the postsynaptic density of excitatory synapses. [-]

             autosomal dominant intellectual developmental disorder 8

          NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES,

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD