Gamma-Aminobutyric Acid Receptor, Delta

Alternative Names

  • GABRD
  • GABA-A Receptor, Delta Polypeptide
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OMIM Number

137163

NCBI Gene ID

2563

Uniprot ID

O14764

Length

11,414 bases

No. of Exons

10

Protein Name

Gamma-aminobutyric acid receptor subunit delta

Molecular Mass

50708 Da

Amino Acid Count

452

Genomic Location

chr1:2,019,345-2,030,758

Gene Map Locus
1p36.33

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 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000815.5:c.875C>TSaudi ArabiaNC_000001.11:g.2029578C>TUncertain SignificanceLikely PathogenicEpilepsy, Idiopathic Generalized, Susceptibility to, 10NG_008168.1:g.15250C>T; NM_000815.5:c.875C>T; NP_000806.2:p.Thr292Met7781048223064155
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