Recombinant Human Gamma-aminobutyric acid receptor subunit delta (GABRD), Truncated

Uniprot Id

O14764

Target Species

Human

Target Name

GABRD

Target Full Name

Gamma-aminobutyric acid receptor subunit delta

Target Function

GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Target Involvement

Generalized epilepsy with febrile seizures plus 5 (GEFS+5); Epilepsy, idiopathic generalized 10 (EIG10); Juvenile myoclonic epilepsy 7 (EJM7)

Target Subcellular Location

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Target Protein Families

Ligand-gated ion channel (TC 1.A.9) family, Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily, GABRD sub-subfamily

Target Synonyms

GABA(A) receptor subunit delta; Gabrd; Gamma aminobutyric acid GABA A receptor delta; Gamma aminobutyric acid receptor delta subunit precursor GABA A receptor; Gamma-aminobutyric acid receptor subunit delta; GBRD_HUMAN; MGC45284

Target Background

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined.