GABRB3 gene is a recently identified gene located in 15q12 chromosome and encodes encodes the β3-subunit of the GABA-A receptor, a ligand-gated chloride channel.
The gene is believed to share a role in inhibitory GABAergic synapses, GABA iron-gated channel function, and possible cellular response to histamine.
The β3 subunit is expressed in cerebral grey matter, thalami, hippocampi, and cerebellum, among other structures.
GABA-A receptors mediate fast inhibitory neurotransmission in the central nervous system (CNS).
Faulty GABRB3 function is linked to several neurological disorders and clinical syndromes. However, the spectrum of such disorders is not yet well known
Mutations in GABRB3 are emerging as a significant cause of early infantile epileptic encephalopathy (EIEE), a severe developmental and epileptic encephalopathy.
