Name: Anti-GABRD Antibody (CAB16016)
Brand: Signal Transduction Antibodies 2
SKU: CAB16016
Availability: OutOfStock

Antibody Name:	Anti-GABRD Antibody
Antibody SKU:	CAB16016
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 330-430 of human GABRD (NP_000806.2).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse, Rat
Positive Samples:	SH-SY5Y, mouse brain, rat brain, rat liver

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 330-430 of human GABRD (NP_000806.2).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	FAHF NADY RKKQ KAKV KVSR PRAE MDVR NAIV LFSL SAAG VTQE LAIS RRQR RVPG NLMG SYRS VGVE TGET KKEG AARS GGQG GIRA RLRP IDAD TIDI Y
Gene ID:	2563
Uniprot:	O14764
Cellular Location:
Calculated MW:	50kDa
Observed MW:	68kDa

Synonyms:

GABRD, EIG10, EJM7, GEFSP5

Background:

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.

UniProt Protein Function:	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.
UniProt Protein Details:	Protein type:Membrane protein, multi-pass; Membrane protein, integral Chromosomal Location of Human Ortholog: 1p36.3 Cellular Component: cell junction; integral to plasma membrane; postsynaptic membrane Molecular Function:chloride channel activity; extracellular ligand-gated ion channel activity; GABA-A receptor activity; protein binding Biological Process: signal transduction; synaptic transmission; transport Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 10
NCBI Summary:	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 Code:	O14764
NCBI GenInfo Identifier:	59802571
NCBI Gene ID:	2563
NCBI Accession:	O14764.2
UniProt Secondary Accession:	O14764,Q8N4N9,
UniProt Related Accession:	O14764
Molecular Weight:	50,708 Da
NCBI Full Name:	Gamma-aminobutyric acid receptor subunit delta
NCBI Synonym Full Names:	gamma-aminobutyric acid type A receptor delta subunit
NCBI Official Symbol:	GABRD
NCBI Official Synonym Symbols:	EJM7; EIG10; GEFSP5
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
Protein Family:	Gamma-aminobutyric acid receptor
UniProt Gene Name:	GABRD
UniProt Entry Name:	GBRD_HUMAN

Western blot analysis of extracts of various cell lines, using GABRD antibody (CAB16016) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s.

Antibodies

GABRD Antibody (PACO03782)

GABRD Antibody (PACO09388)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)