Gene Symbol | GABRG2 |
Entrez Gene ID | 2566 |
Full Name | gamma-aminobutyric acid type A receptor gamma2 subunit |
Synonyms | CAE2,ECA2,GEFSP3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3); {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3); Febrile seizures, familial, 8, 611277 (3) |