DISEASES

Disease-gene associations mined from literature

Literature associating GABRA1 and generalized epilepsy with febrile seizures plus

GABRA1 [ENSP00000393097]

Gamma-aminobutyric acid receptor subunit alpha-1; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity . GABRA1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity). ECO:0000250|UniProtKB:P62813, ECO:0000269|PubMed:23909897,; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub- subfamily.

Synonyms:  GABRA1,  GABRA1p,  hGABRA1,  A0A0U1RQJ3,  A0A0U1RRB2 ...

Linkouts:  STRING  Pharos  UniProt