GABRD gene

gamma-aminobutyric acid type A receptor delta subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Epilepsy, idiopathic generalized 10

From UniProt:

Juvenile myoclonic epilepsy 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. [MIM:613060]

Generalized epilepsy with febrile seizures plus 5 (GEFS+5): A rare autosomal dominant, 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. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. [MIM:613060]

Epilepsy, idiopathic generalized 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. [MIM:613060]

Cytogenetic Location: 1p36.33, which is the short (p) arm of chromosome 1 at position 36.33

Molecular Location: base pairs 2,019,329 to 2,030,753 on chromosome 1 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 1p36.33, which is the short (p) arm of chromosome 1 at position 36.33
  • EIG10
  • EJM7
  • GEFSP5