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MRD6

Chr 12AD

glutamate ionotropic receptor NMDA type subunit 2B

Also known as: DEE27, EIEE27, GluN2B, MRD6, NMDAR2B, NR2B, NR3, hNR3

NCBI Gene: 2904 OMIM: 613970

This gene encodes an NMDA receptor subunit that functions as an agonist binding site for glutamate and mediates calcium-permeable excitatory synaptic transmission in the central nervous system. Mutations cause intellectual developmental disorder, autosomal dominant 6, with or without seizures, following an autosomal dominant inheritance pattern. The protein plays important roles in brain development, circuit formation, and synaptic plasticity during early development.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]

GeneReviews OMIM ResearchGenerating clinical summary…