Gamma-aminobutyric acid receptor subunit gamma-2
Gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2) is a protein that in humans is encoded by the GABRG2 gene. It is a subunit of the gamma-aminobutyric acid (GABA) receptors, which are ligand-gated ion channels involved in inhibitory neurotransmission across the synapse.
Structure[edit | edit source]
The GABRG2 gene is located on the chromosome 5 at position 5q34. The protein encoded by this gene is a subunit of the GABA_A receptor, which is a pentameric transmembrane receptor that consists of five subunits. The GABRG2 subunit is one of several different types of subunits that can be incorporated into the receptor, and it contributes to the receptor's functional diversity.
Function[edit | edit source]
The GABRG2 subunit is part of the GABA_A receptor, which is the main inhibitory receptor in the mammalian brain. 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 makes it less likely to fire an action potential, thus inhibiting neuronal activity.
Clinical significance[edit | edit source]
Mutations in the GABRG2 gene have been associated with several neurological disorders, including epilepsy, febrile seizures, and Dravet syndrome. These mutations can cause the GABA_A receptor to function abnormally, leading to increased neuronal excitability and seizures.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
