GRIA1

Description

The GRIA1 (glutamate ionotropic receptor AMPA type subunit 1) is a protein-coding gene located on chromosome 5.

GRIA1 encodes a protein called Glutamate receptor 1, which is a key excitatory neurotransmitter receptor in the mammalian brain. It's part of a family of AMPA receptors, each with flip and flop isoforms due to alternative RNA splicing. This specific isoform is the flop isoform. GRIA1 is involved in synaptic plasticity and is found in granule and pyramidal cells of the hippocampal formation.

GRIA1 is an ionotropic glutamate receptor. It functions as a ligand-gated cation channel, activated by L-glutamate and other glutamate agonists like AMPA, quisqualic acid, and kainic acid. Binding of L-glutamate induces a conformational change, opening the channel and converting the chemical signal to an electrical impulse. The receptor then rapidly desensitizes, entering a transient inactive state with bound agonist. In the presence of CACNG4, CACNG7, or CACNG8, it resensitizes, showing a delayed accumulation of current flux upon continued glutamate application.

GRIA1 is also known as GLUH1, GLUR1, GLURA, GluA1, HBGR1, MRD67, MRT76.

Associated Diseases

• Intellectual developmental disorder, autosomal dominant 67
• Intellectual developmental disorder, autosomal recessive 76