GRIN2B
GRIN2B
A gene on chromosome 12p12 that encodes an epsilon subunit of N-methyl-D-aspartate (NMDA) receptors, which belong to the glutamate receptor channel superfamily. NMDA receptors consist of multiple subunits arranged to form a ligand-gated ion channel, which play a key role in long-term potentiation and the plasticity of synapses (central to memory and learning). GRIN2B forms a complex with GRIN1, GRIN3A and PPP2CB; it interacts with HIP1, NETO1, MAGI3 and DAPK1, and with the PDZ domains of INADL and DLG4. It is highly expressed in the fronto-parieto-temporal cortex and hippocampus pyramidal cells.Molecular pathology
Defects in GRIN2B cause mental retardation autosomal dominant type 8.