BC033801
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
50,708 Da
NCBI Official Full Name
Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta, mRNA
NCBI Official Synonym Full Names
gamma-aminobutyric acid type A receptor delta subunit
NCBI Protein Information
gamma-aminobutyric acid receptor subunit delta
UniProt Protein Name
Gamma-aminobutyric acid receptor subunit delta
UniProt Synonym Protein Names
GABA(A) receptor subunit delta
UniProt Entry Name
GBRD_HUMAN
NCBI Summary for 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]
UniProt Comments for GABRD
GABRD: 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. Defects in GABRD are the cause of susceptibility to generalized epilepsy with febrile seizures plus type 5 (GEFS+5). Generalized epilepsy with febrile seizures-plus refers to a rare familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Defects in GABRD are the cause of susceptibility to epilepsy, idiopathic generalized type 10 (EIG10). A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Defects in GABRD are the cause of susceptibility to juvenile myoclonic epilepsy type 7 (EJM7). A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-subfamily.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 1p36.3
Cellular Component: integral to plasma membrane
Molecular Function: protein binding
Biological Process: transport
Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Research Articles on GABRD
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Pathways associated with GABRD cdna clone
Diseases associated with GABRD cdna clone
Organs/Tissues associated with GABRD cdna clone
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