GABRA2

GABRA2 is a gene that encodes the alpha 2 subunit of the GABA_A receptor, a protein that plays a crucial role in the function of the central nervous system. The GABRA2 gene is located on the long arm of chromosome 4 (4p12).

Function

The GABRA2 gene is part of the GABA_A receptor complex, which is a ligand-gated chloride channel. Activation of this receptor by GABA (gamma-aminobutyric acid), the primary inhibitory neurotransmitter in the mammalian brain, allows the influx of chloride ions into the neuron. This influx of chloride ions hyperpolarizes the neuron's membrane potential, effectively inhibiting the neuron's ability to generate an action potential.

Clinical Significance

Variations and mutations in the GABRA2 gene have been associated with a variety of neurological and psychiatric conditions, including alcohol dependence, drug dependence, epilepsy, and anxiety disorders.

Alcohol and Drug Dependence

Several studies have found an association between variations in the GABRA2 gene and alcohol dependence. These variations may alter the function of the GABA_A receptor, potentially increasing an individual's susceptibility to alcohol dependence. Similarly, variations in the GABRA2 gene have also been associated with drug dependence.

Epilepsy

Mutations in the GABRA2 gene can cause a rare form of epilepsy known as juvenile myoclonic epilepsy. This form of epilepsy is characterized by involuntary muscle twitching (myoclonus) and seizures.

Anxiety Disorders

Research has suggested a link between the GABRA2 gene and anxiety disorders. Variations in this gene may affect the function of the GABA_A receptor, potentially influencing an individual's susceptibility to anxiety disorders.

See Also

• GABA_A receptor
• GABA
• Alcohol dependence
• Drug dependence
• Epilepsy
• Anxiety disorders

References

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