GABRA6

GABRA6 is a gene that encodes the gamma-aminobutyric acid (GABA) A receptor, alpha 6 subunit. This receptor is part of the GABA receptor family, which are ligand-gated ion channels that mediate the inhibitory effects of GABA, the primary inhibitory neurotransmitter in the central nervous system.

Function

The GABRA6 gene product is a subunit of the GABA A receptor, which is a pentameric chloride channel. The alpha 6 subunit is predominantly expressed in the cerebellum, particularly in the granule cells. The GABA A receptor plays a crucial role in modulating neuronal excitability and maintaining the balance between neuronal excitation and inhibition.

Structure

The GABA A receptor is composed of five subunits that can belong to different classes: alpha (α), beta (β), gamma (γ), delta (δ), and others. The alpha 6 subunit encoded by GABRA6 is one of the multiple alpha subunits that can be part of the receptor complex. The specific composition of subunits in a GABA A receptor determines its pharmacological properties and localization within the brain.

Clinical Significance

Mutations or variations in the GABRA6 gene have been studied in relation to various neurological and psychiatric conditions. These include epilepsy, anxiety disorders, and alcohol dependence. The alpha 6 subunit's specific expression in the cerebellum suggests it may play a role in cerebellar functions and related disorders.

Research

Research on GABRA6 continues to explore its role in the central nervous system and its potential as a target for therapeutic interventions. Studies often focus on understanding how different subunit compositions of GABA A receptors affect their function and how this relates to disease states.

See Also

• GABA
• GABA receptor
• Cerebellum
• Neurotransmitter
• Ion channel