GABRD

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. [provided by RefSeq, Jul 2008]

Description

Gamma-aminobutyric acid type A receptor subunit delta

Tissue specificity

Tissue enriched (brain)

Subcell location

Golgi apparatus, Vesicles

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

1 (2019329 - 2030758)

Ensembl ID

ENSG00000187730  (ver. 103.38)

Orthologs

Mouse Gabrd: ENSMUSG00000029054

UniProt

O14764

neXtProt

NX_O14764

Human splice variants
Mouse splice variants

Protein structure