Gamma-aminobutyric acid receptor subunit alpha-5
Definition:
Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse.
References:
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[1]. Kameryn M Butler, et al. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. Brain. 2018 Aug 1;141(8):2392-2405. [Content Brief]
[2]. Ciria C Hernandez, et al. Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. Brain. 2019 Jul 1;142(7):1938-1954. [Content Brief]
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