GRIN2A
GRIN2A
A gene on chromosome 16p13.2 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).Molecular pathology
Defects in GRIN2A cause epilepsy with neurodevelopmental defects; GRIN2A somatic mutations are seen in melanoma, suggesting a role for the glutamate signalling pathway in the pathogenesis of melanoma.