DISEASES

Disease-gene associations mined from literature

Literature associating GRIN1 and amblyopia

GRIN1 [ENSP00000360608]

Glutamate receptor, ionotropic, N-methyl D-aspartate 1; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily.

Synonyms:  GRIN1,  GRIN1p,  hGRIN1,  A0A024R8G5,  Q05586 ...

Linkouts:  STRING  Pharos  UniProt  OMIM