Description
The NMDA receptor(NMDAR) is a specific type of ionotropic glutamate receptor. NMDA(N-methyl D-aspartate) is the name of a selective agonist that binds to NMDA receptors but not to other glutamate receptors. Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. NMDAR1 gene is mapped to 9q34.3 and encodes a 938-amino acid protein which showed high evolutionary conservation in structure and physiologic properties. It consists of 21 exons distributed over about 31 kb. Three of the exons that are alternatively spliced in the rat and which produce 8 isoforms in that species were also present in the human sequence. The promoter region contained 2 DNA binding sites for the homeobox proteins 'even-skipped'. The gene is a candidate for the site of the mutation in torsion dystonia.The NMDA receptor is a non-specific cation channel and thus directly contributes to excitatory synaptic transmission by depolarizing the postsynaptic cell. NMDA receptors are modulated by a number of endogenous and exogenous compounds and play a key role in a wide range of physiologic and pathologic processes, such as excitotoxicity