catalog number :
MBS2518621
products full name :
GABRA1 Antibody
products short name :
[GABRA1]
products name syn :
[ECA4; EJM]
other names :
[gamma-aminobutyric acid receptor subunit alpha-1; Gamma-aminobutyric acid receptor subunit alpha-1; gamma-aminobutyric acid receptor subunit alpha-1; GABA(A) receptor subunit alpha-1; GABA(A) receptor, alpha 1; gamma-aminobutyric acid (GABA) A receptor, alpha 1; GABA(A) receptor subunit alpha-1]
products gene name :
[GABRA1]
other gene names :
[GABRA1; GABRA1; EJM; ECA4; EJM5; EIEE19]
uniprot entry name :
GBRA1_HUMAN
reactivity :
Human, Mouse
purity :
Antigen affinity purification
storage stability :
Store at -20 degree C. Avoid freeze / thaw cycles
tested application :
ELISA (EIA), Western Blot (WB)
app notes :
WB: 1:500-1:5000
image1 heading :
Testing Data
other info1 :
Immunogen: Fusion protein of GABRA1
other info2 :
Buffer: PBS with 0.1% sodium azide and 50% glycerol pH 7.3 . Santa Cruz Alternative: Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-7348 / sc-31404 / sc-31405 / sc-31403 / sc-14005
products description :
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a seperate allosteric effector binding site. Functions as ligand-gated chloride channel.
ncbi acc num :
NP_001121120.1
ncbi gb acc num :
NM_001127648.1
ncbi mol weight :
456aa, 52kDa
ncbi pathways :
GABA A Receptor Activation Pathway (187179); GABA Receptor Activation Pathway (187178); GABAergic Synapse Pathway (377263); GABAergic Synapse Pathway (377129); Ion Channel Transport Pathway (187193); Ligand-gated Ion Channel Transport Pathway (187195); Morphine Addiction Pathway (552665); Morphine Addiction Pathway (554808); Neuroactive Ligand-receptor Interaction Pathway (83053); Neuroactive Ligand-receptor Interaction Pathway (462)
ncbi summary :
This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
uniprot summary :
GABRA1: 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 GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4). A subtype of idiopathic generalized epilepsy characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures may develop. Absence seizures may either remit or persist into adulthood. Defects in GABRA1 are the cause of juvenile myoclonic epilepsy type 5 (EJM5). 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. GABRA1 sub-subfamily. Protein type: Membrane protein, integral; Membrane protein, multi-pass; Channel, ligand-gated; Transporter; Transporter, ion channel. Chromosomal Location of Human Ortholog: 5q34. Cellular Component: postsynaptic membrane; integral to plasma membrane; plasma membrane; cell junction. Molecular Function: chloride channel activity; GABA-A receptor activity; GABA receptor activity; drug binding; extracellular ligand-gated ion channel activity. Biological Process: synaptic transmission; transport; synaptic transmission, GABAergic; transmembrane transport; gamma-aminobutyric acid signaling pathway. Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 13; Epileptic Encephalopathy, Early Infantile, 19