Gamma-aminobutyric acid receptor subunit alpha-1

Gamma-aminobutyric acid receptor subunit alpha-1 (GABRA1) is a protein that in humans is encoded by the GABRA1 gene. It is a subunit of the GABA_A receptor, a type of ligand-gated ion channel in the central nervous system that responds to the neurotransmitter gamma-aminobutyric acid (GABA).

Structure

The GABRA1 protein is a large, complex molecule composed of multiple amino acid sequences. It is one of several subunits that make up the GABA_A receptor, which also includes beta, gamma, delta, and rho subunits. Each subunit contributes to the overall structure and function of the receptor.

Function

The GABRA1 subunit plays a crucial role in the function of the GABA_A receptor. When GABA binds to the receptor, it causes a conformational change that allows chloride ions to flow into the neuron. This influx of chloride ions hyperpolarizes the neuron, making it less likely to fire an action potential. This inhibitory effect of GABA is crucial for regulating neuronal excitability and maintaining a balance between excitation and inhibition in the brain.

Clinical significance

Mutations in the GABRA1 gene have been associated with a variety of neurological and psychiatric disorders, including epilepsy, anxiety disorders, and alcohol dependence. In particular, mutations that reduce the function of the GABRA1 subunit can lead to increased neuronal excitability, which can contribute to the development of seizures in epilepsy.

See also

• GABA_A receptor
• Gamma-aminobutyric acid
• Neurotransmitter

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