GABRA4

GABRA4 is a gene that encodes the alpha 4 subunit of the GABA_A receptor, a protein that plays a crucial role in the function of the central nervous system. The GABA_A receptor is a type of ligand-gated ion channel that responds to the neurotransmitter gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the mammalian brain.

Structure[edit | edit source]

The GABRA4 gene is located on the long arm of chromosome 4 (4p12). The encoded protein is part of the GABA_A receptor, which is a pentameric structure composed of five subunits. The most common configuration includes two alpha subunits, two beta subunits, and one gamma subunit. The alpha 4 subunit encoded by GABRA4 can pair with any of the beta subunits and either the gamma or delta subunit to form a functional receptor.

Function[edit | edit source]

The GABA_A receptor is an ionotropic receptor and ligand-gated ion channel. Its endogenous ligand is GABA, which binds to the receptor and causes a conformational change that allows the flow of chloride ions into the neuron. This hyperpolarizes the neuron and makes it less likely to fire an action potential, thus inhibiting neuronal activity.

The alpha 4 subunit encoded by GABRA4 is particularly important in certain areas of the brain, including the hippocampus, thalamus, and cerebral cortex. It is thought to play a role in synaptic plasticity and the modulation of neurotransmission.

Clinical significance[edit | edit source]

Mutations in the GABRA4 gene have been associated with various neurological and psychiatric disorders, including epilepsy, autism, and anxiety disorders. In particular, a variant in this gene has been linked to an increased risk of temporal lobe epilepsy.