GRIK2 Antibody – Rabbit Polyclonal

GluR6: Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2. Defects in GRIK2 are the cause of mental retardation autosomal recessive type 6 (MRT6). It is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT6 patients display mild to severe mental retardation and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal. Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK2 subfamily. 7 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Channel, calcium; Channel, ligand-gated; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 6q16.3

Cellular Component: dendrite cytoplasm; presynaptic membrane; postsynaptic membrane; kainate selective glutamate receptor complex; integral to plasma membrane; dendrite; postsynaptic density; plasma membrane; terminal button; perikaryon; cell junction

Molecular Function: protein homodimerization activity; kainate selective glutamate receptor activity; extracellular-glutamate-gated ion channel activity; ubiquitin conjugating enzyme binding; ubiquitin protein ligase binding; PDZ domain binding

Biological Process: regulation of synaptic transmission; regulation of long-term neuronal synaptic plasticity; synaptic transmission, glutamatergic; behavioral fear response; glutamate signaling pathway; generation of action potential; negative regulation of synaptic transmission, glutamatergic; regulation of short-term neuronal synaptic plasticity; regulation of JNK cascade; receptor clustering; positive regulation of synaptic transmission; cellular calcium ion homeostasis; synaptic transmission; intracellular protein transport; regulation of inhibitory postsynaptic membrane potential; neuron apoptosis; ionotropic glutamate receptor signaling pathway; transport; positive regulation of neuron apoptosis; negative regulation of neuron apoptosis; regulation of excitatory postsynaptic membrane potential

Disease: Mental Retardation, Autosomal Recessive 6