QuickView for GABRD (gene)

Gene Symbol:

GABRD Homo sapiens

Full name:

gamma-aminobutyric acid type A receptor delta subunit

Synonyms:

EIG10, EJM7, GEFSP5, gamma-aminobutyric acid receptor subunit delta, GABA(A) receptor subunit delta, GABA(A) receptor, delta, GABA-A receptor, delta polypeptide, gamma-aminobutyric acid (GABA) A receptor, delta

Genomic Location:

Chr 1: 1940703-1952050

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio ,  Pan troglodytes ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GGGCGGR_SP1_Q6

Cytogenetic Map:

1p36.33

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