GRIK2

This protein functions as an ionotropic glutamate receptor that forms cation-permeable channels gated by L-glutamate and kainic acid, serving as an excitatory neurotransmitter receptor in the central nervous system. Mutations cause intellectual developmental disorder and neurodevelopmental disorder with impaired language and ataxia with or without seizures, inherited in autosomal recessive or autosomal dominant patterns. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.