GABRA1 codes for an alpha subunit of the gamma-aminobutyric acid (GABA) A receptor. Genetic alterations in GABRA1 have been linked to juvenile myoclonic epilepsy, bipolar disorders and Dravet syndrome. Rabbit Anti-GABRA1 antibody recognizes canine, bovine, human, mouse, and rat GABRA1.
Immunogen
Synthetic peptide directed towards the N terminal region of human GABRA1
Application
Rabbit Anti-GABRA1 antibody is suitable for western blot applications at 0.5 μg/ml.
Biochem/physiol Actions
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. At least 16 distinct subunits of GABA-A receptors have been identified.
Sequence
Synthetic peptide located within the following region: WAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGL
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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The gamma-aminobutyric acid (GABA) neurotransmitter system has been implicated in the pathogenesis of mood disorders. The GABRA1 gene encodes one of the subunits of GABA-A receptor and is located on human chromosome 5q34-q35, which is a region reportedly linked to
Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the alpha1 subunit
To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing. We performed whole-exome sequencing in 13 SCN1A-negative patients with Dravet syndrome and targeted resequencing in 67 additional patients to identify new
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