The gabra6 gene encodes a subunit of the GABA-A receptor, which is a ligand-gated chloride channel and a major inhibitory neurotransmitter receptor in the central nervous system. The protein localizes ...[+]

The gabra6 gene encodes a subunit of the GABA-A receptor, which is a ligand-gated chloride channel and a major inhibitory neurotransmitter receptor in the central nervous system. The protein localizes to the plasma membrane, forming a pentameric ion channel pore that mediates neuronal inhibition upon binding gamma-aminobutyric acid (GABA). Expression is documented in the brain, spinal cord, and retina. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD