Disease-gene associations mined from literature

Literature associating GRIK1 and juvenile absence epilepsy

GRIK1 [ENSP00000382791]

Glutamate receptor, ionotropic, kainate 1; 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.

Synonyms:  GRIK1,  GRIK1p,  hGRIK1,  D3DSE2,  E7ENK3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM