GRIN2A
Glutamate receptor subunit epsilon-1 is a protein that in humans is encoded by the GRIN2A gene.Function
N-methyl-D-aspartate receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 and 1 or more of the 4 NMDAR2 subunits: NMDAR2A, NMDAR2B, NMDAR2C, and NMDAR2D.Associations
Variants of the gene are associated with the protective effect of coffee on Parkinson's disease.
Mutations in GRIN2A are associated to refractory epilepsy.
Whole exome/genome sequencing has led to the discovery of an association between mutations in GRIN2A and a wide variety of neurological diseases, including epilepsy, intellectual disability, autism spectrum disorders, developmental delay, and schizophrenia.Interactions
GRIN2A has been shown to interact with:
