Disease-gene associations mined from literature

Literature associating GRIA1 and Crouzon syndrome-acanthosis nigricans syndrome

GRIA1 [ENSP00000428994]

Glutamate receptor, ionotropic, AMPA 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. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate.

Synonyms:  GRIA1,  GRIA1p,  hGRIA1,  B7Z2J3,  P42261 ...

Linkouts:  STRING  Pharos  UniProt