GRIN2A(redirected from N-methyl-D-aspartate receptor channel, subunit epsilon-1)
GRIN2AA 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).
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.
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