GABRA6 Gene - GABA-A Receptor Subunit Alpha6 | Function & Disease

GABRA6 (gamma-aminobutyric acid type A receptor subunit alpha6) is a protein-coding gene located on chromosome 5q34. It encodes the alpha6 subunit of the GABA-A receptor, a pentameric ligand-gated chloride channel that mediates fast inhibitory neurotransmission in the central nervous system. The alpha6 subunit is predominantly expressed in cerebellar granule cells and contributes to receptor pharmacology, including benzodiazepine sensitivity. Mutations and polymorphisms in GABRA6 have been implicated in epilepsy, neuropsychiatric disorders, and alcohol dependence.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• GABAergic synapse (KEGG: hsa04727)

• Neuroactive ligand-receptor interaction (KEGG: hsa04080)

The GABRA6 protein (UniProt Q16445) is a 453-amino acid subunit of the GABA-A receptor. It contains an extracellular N-terminal domain with a signal peptide, four transmembrane domains (M1-M4), and a large intracellular loop. The alpha6 subunit confers unique pharmacological properties, including insensitivity to classical benzodiazepines due to a histidine-to-arginine substitution at position 100. It forms heteropentameric receptors (typically alpha6beta2/3gamma2) that mediate fast inhibitory neurotransmission in cerebellar granule cells.