NMDAR2A ist ein Gen, das durch das Symbol GRIN2A kodiert wird. Im Allgemeinen auch bezeichnet als: Glutamate receptor ionotropic, NMDA 2A; GluN2A; Glutamate [NMDA] receptor subunit epsilon-1; N-methyl D-aspartate receptor subtype 2A; GRIN2A. NMDAR2A hat eine Masse von 165.28kDa, eine Aminosäurelänge von 1464, und ist an Epilepsy, focal, with speech disorder and with or without mental retardation beteiligt.
Wir bieten 7 antikörper gegen NMDAR2A, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kinetics than channels formed by GRIN1 and GRIN2B (PubMed:26919761, PubMed:26875626). Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity).
Entrez Zusammenfassung
This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants.
Rolle bei Krankheiten
Epilepsy, focal, with speech disorder and with or without mental retardation: A highly variable neurologic disorder with features ranging from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, mental retardation and speech dyspraxia, and benign epilepsy with centrotemporal spikes.
Sequenzähnlichkeiten
Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily.
Zellort
Cell projection > Dendritic spine. Cell membrane. Cell junction > Synapse. Cell junction > Synapse > Postsynaptic cell membrane. Cytoplasmic vesicle membrane.
Expression at the dendrite cell membrane and at synapses is regulated by SORCS2 and the retromer complex.
