Gamma-aminobutyric acid receptor subunit alpha-2

Definition:

Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha2/beta2/gamma2 receptor exhibits synaptogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity).

References:

[1]. Snezana Maljevic, et al. Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. Brain. 2019 May 1;142(5):e15. [Content Brief]

[2]. 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]

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