GABRA5

GABRA5 is a gene that encodes the alpha 5 subunit of the GABA_A receptor, a protein that is integral to the function of the central nervous system. The GABA_A receptor is a type of ligand-gated ion channel that is activated by the neurotransmitter gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the mammalian brain.

Structure

The GABRA5 gene is located on the long arm of chromosome 15 (15q11.2-q12). The protein encoded by this gene is part of the GABA_A receptor complex, which is a pentameric structure composed of five subunits. The alpha 5 subunit is one of several possible alpha subunits that can be included in the receptor complex.

Function

The alpha 5 subunit of the GABA_A receptor contributes to the functional diversity of the receptor complex. When GABA binds to the receptor, it causes the channel to open and allows chloride ions to flow into the neuron. This influx of chloride ions hyperpolarizes the neuron and inhibits its ability to fire an action potential. The alpha 5 subunit is thought to play a role in the sedative effects of certain benzodiazepine drugs.

Clinical significance

Mutations in the GABRA5 gene have been associated with several neurological and psychiatric disorders, including epilepsy, autism, and schizophrenia. In particular, a variant of the gene has been linked to an increased risk of alcohol dependence.

See also

• GABA_A receptor
• Gamma-aminobutyric acid
• Benzodiazepine