Rabbit anti-Human GABRD Polyclonal Antibody | anti-GABRD antibody

GABRD, ID (GABRD, Gamma-aminobutyric acid receptor subunit delta, GABA(A) receptor subunit delta) (Biotin)

Cat. Num. AAA6300875

• Gene Names: GABRD; EJM7; EIG10; GEFSP5
• Reactivity: Human
• Applications: Flow Cytometry, Functional Assay, ELISA, Immunohistochemistry, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: GABRD; Polyclonal Antibody; ID (GABRD; Gamma-aminobutyric acid receptor subunit delta; GABA(A) receptor subunit delta) (Biotin); GABA(A) receptor subunit delta; anti-GABRD antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.

• Applicable Applications for anti-GABRD antibody: Flow Cytometry (FC/FACS), ELISA (EIA), Immunohistochemistry (IHC), Western Blot (WB)
• Application Notes: FC/FACS: 1:10-50; ELISA: 1:1,000; IHC: 1:50-100; WB: 1:100-500; Applications are based on unconjugated antibody.
• Immunogen: GABRD antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 337~367 amino acids from the Center region of human GABRA4.
• Conjugate: Biotin
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western blot analysis of GABRD Antibody (Center) in MDA-MB435 cell line lysates (35ug/lane). GABRD (arrow) was detected using the purified Pab.)

Immunohistochemistry (IHC)

(GABRD Antibody (Center) IHC analysis in formalin fixed and paraffin embedded brain tissue followed by peroxidase conjugation of the secondary antibody and DAB staining. This data demonstrates the use of the GABRD Antibody (Center) for immunohistochemistry. Clinical relevance has not been evaluated.)

Flow Cytometry (FC/FACS)

(GABRD Antibody (Center) flow cytometric analysis of MDA-MB435 cells (bottom histogram) compared to a negative control cell (top histogram).FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.)

Product Categories/Family for anti-GABRD antibody

Antibodies; Receptors

References

Gratacos, M., et.al., Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (6), 808-816 (2009). Maldonado-Aviles, J.G., et.al., Am J Psychiatry 166 (4), 450-459 (2009). Tabakoff, B., et.al., BMC Biol. 7, 70 (2009).

NCBI and Uniprot Product Information

• NCBI GI #: 34734071
• NCBI GeneID: 2563
• NCBI Accession #: NP_000806.2
• NCBI GenBank Nucleotide #: NM_000815.4
• UniProt Accession #: O14764; Q8N4N9
• Molecular Weight: 50,708 Da
• NCBI Official Full Name: gamma-aminobutyric acid receptor subunit delta
• NCBI Official Synonym Full Names: gamma-aminobutyric acid (GABA) A receptor, delta
• NCBI Official Symbol: GABRD
• NCBI Official Synonym Symbols: EJM7; EIG10; GEFSP5
• NCBI Protein Information: gamma-aminobutyric acid receptor subunit delta; GABA(A) receptor, delta; GABA(A) receptor subunit delta; GABA-A receptor, delta polypeptide
• UniProt Protein Name: Gamma-aminobutyric acid receptor subunit delta
• Protein Family: Gamma-aminobutyric acid receptor
• UniProt Gene Name: GABRD
• UniProt Entry Name: GBRD_HUMAN

NCBI Description

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 Description

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.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1p36.3

Cellular Component: postsynaptic membrane; integral to plasma membrane; cell junction

Molecular Function: chloride channel activity; GABA-A receptor activity; extracellular ligand-gated ion channel activity

Biological Process: synaptic transmission; transport; signal transduction

Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 10