Gamma-aminobutyric acid receptor subunit gamma-2
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene.
AliasesGABRG2, CAE2, ECA2, GEFSP3, gamma-aminobutyric acid type A receptor gamma2 subunit, EIEE74, FEB8
External IDsOMIM: 137164; MGI: 95623; HomoloGene: 22443; GeneCards: GABRG2; OMA:GABRG2 - orthologs
Function
Gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain, mediates neuronal inhibition by binding to GABA receptors. The type A GABA receptors are pentameric chloride channels assembled from among many genetic variants of GABA(A) subunits. This gene encodes the gamma 2 subunit of GABA(A) receptor. Mutations in this gene have been associated with epilepsy and febrile seizures. Alternative splicing of this gene results in transcript variants encoding different isoforms.[5]
