GABRD
Description
The GABRD (gamma-aminobutyric acid type A receptor subunit delta) is a protein-coding gene located on chromosome 1.
Gamma-aminobutyric acid receptor subunit delta is a protein that in humans is encoded by the GABRD gene. In the mammalian brain, the delta (δ) subunit forms specific GABAA receptor subtypes by co-assembly leading to δ subunit containing GABAA receptors (δ-GABAA receptors).
The delta (δ) subunit, one of the subunits of the hetero-pentameric δ-GABAA receptors, is a determinant subunit for the specific cellular localization of δ-GABAA receptors, which are modulated by the GABA. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts on the repertoire of GABAA receptors, the ligand-gated chloride channels. It is assembled from a diverse subunit pool, including assemblies from a family of 19 subunits (α1-α6, β1-β3, γ1-γ3, δ, ∈, θ, π and ρ1-ρ3). The GABRD gene encodes the delta (δ) subunit. Specifically, the δ-subunit is usually expressed in GABAA receptors associated with extrasynaptic activity, mediating tonic inhibition, which is slower compared to classical inhibition (phasic or synaptic inhibition). The most common GABAA receptors have the gamma subunit, which allows the receptor to bind benzodiazepines. For this reason, receptors containing δ-subunits (δ-GABAA receptor) are sometimes referred to as “benzodiazepine-insensitive” GABAA receptors. However, they do show an exquisitely high sensitivity to ethanol compared to the benzodiazepine-sensitive receptors, which do not respond to ethanol however these results are not fully confirmed in the literature. The δ-subunit containing receptors are also known to be involved in the ventral tegmental area (VTA) pathway in the brain's hippocampus, which means that they may have implications in learning, memory, and reward.
GABA, the primary inhibitory neurotransmitter in the vertebrate brain, triggers neuronal inhibition by interacting with the GABA/benzodiazepine receptor, resulting in the opening of an integral chloride channel.
GABRD is also known as EIG10, EJM7, GABAARdelta, GEFSP5.
Associated Diseases
- Generalized epilepsy with febrile seizures-plus
- 1p36 deletion syndrome
- Juvenile myoclonic epilepsy
- Epilepsy, idiopathic generalized, 10
