GABRD, Official Symbol GABRDprovided by HGNC Official Full Name gamma-aminobutyric acid type A receptor subunit deltaprovided by HGNC Primary source HGNC:HGNC:4084 See related Ensembl:ENSG00000187730 MIM:137163; AllianceGenome:HGNC:4084 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EJM7; EIG10; GEFSP5; GABAARdelta Summary 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] Expression Biased expression in brain (RPKM 6.5), testis (RPKM 1.0) and 1 other tissue See more Orthologs mouse all