Gene: GRIK1

Alternate names for this Gene: EAA3|EEA3|GLR5|GLUR5|GluK1|gluR-5

Gene Summary: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q21.3

Description of this Gene: glutamate ionotropic receptor kainate type subunit 1

Type of Gene: protein-coding

rs455804 in GRIK1 gene and Liver carcinoma PMID 22807686 2012 The association at rs455804 implicates GRIK1 as a novel susceptibility gene for HBV-related HCC, suggesting the involvement of glutamate signaling in the development of HBV-related HCC.

rs2832438 in GRIK1 gene and Primary biliary cirrhosis PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.