Anti-GABRG2 Antibody (CAB1733)
- SKU:
- CAB1733
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Frequently bought together:
Description
| Antibody Name: | Anti-GABRG2 Antibody |
| Antibody SKU: | CAB1733 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 170-270 of human GABRG2 (NP_000807.2). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: | U-87MG, Mouse brain, Rat brain |
| Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 170-270 of human GABRG2 (NP_000807.2). |
| 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: | LRIW NDGR VLYT LRLT IDAE CQLQ LHNF PMDE HSCP LEFS SYGY PREE IVYQ WKRS SVEV GDTR SWRL YQFS FVGL RNTT EVVK TTSG DYVV MSVY FDLS R |
| Gene ID: | 2566 |
| Uniprot: | P18507 |
| Cellular Location: | Cell junction, Cell membrane, Multi-pass membrane protein, postsynaptic cell membrane, synapse |
| Calculated MW: | 54kDa/55kDa/59kDa |
| Observed MW: | 54kDa |
| Synonyms: | GABRG2, CAE2, ECA2, GEFSP3 |
| Background: | This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. |
| UniProt Protein Function: | GABRG2: 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 GABRG2 are the cause of childhood absence epilepsy type 2 (ECA2). ECA2 is a subtype of idiopathic generalized epilepsy (IGE) characterized by an 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 develop. Some individuals manifest ECA2 occurring in combination with febrile convulsions. Defects in GABRG2 are the cause of familial febrile convulsions type 8 (FEB8). A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause. Febrile convulsions affect 5-12% of infants and children up to 6 years of age. There is epidemiological evidence that febrile seizures are associated with subsequent afebrile and unprovoked seizures in 2% to 7% of patients. Defects in GABRG2 are the cause of generalized epilepsy with febrile seizures plus type 3 (GEFS+3). Generalized epilepsy with febrile seizures-plus refers to a rare autosomal dominant, 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 GABRG2 are a cause of severe myoclonic epilepsy in infancy (SMEI); also called Dravet syndrome. SMEI is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Membrane protein, multi-pass; Channel, chloride; Transporter, ion channel; Transporter; Membrane protein, integral; Channel, ligand-gated Chromosomal Location of Human Ortholog: 5q34 Cellular Component: postsynaptic membrane; axon; integral to plasma membrane; cytoplasm; plasma membrane; cell junction Molecular Function:chloride channel activity; protein binding; GABA-A receptor activity; benzodiazepine receptor activity; extracellular ligand-gated ion channel activity Biological Process: synaptic transmission; transport; adult behavior; synaptic transmission, GABAergic; transmembrane transport; gamma-aminobutyric acid signaling pathway; post-embryonic development Disease: Epilepsy, Childhood Absence, Susceptibility To, 2; Generalized Epilepsy With Febrile Seizures Plus, Type 3 |
| NCBI Summary: | This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P18507 |
| NCBI GenInfo Identifier: | 116242488 |
| NCBI Gene ID: | 2566 |
| NCBI Accession: | P18507.2 |
| UniProt Secondary Accession: | P18507,Q6GRL6, Q6PCC3, Q9UDB3, Q9UN15, F5HB82, |
| UniProt Related Accession: | P18507 |
| Molecular Weight: | 467 |
| NCBI Full Name: | Gamma-aminobutyric acid receptor subunit gamma-2 |
| NCBI Synonym Full Names: | gamma-aminobutyric acid (GABA) A receptor, gamma 2 |
| NCBI Official Symbol: | GABRG2 |
| NCBI Official Synonym Symbols: | CAE2; ECA2; GEFSP3 |
| NCBI Protein Information: | gamma-aminobutyric acid receptor subunit gamma-2; GABA(A) receptor, gamma 2; GABA(A) receptor subunit gamma-2 |
| UniProt Protein Name: | Gamma-aminobutyric acid receptor subunit gamma-2 |
| UniProt Synonym Protein Names: | GABA(A) receptor subunit gamma-2 |
| Protein Family: | Gamma-aminobutyric acid receptor |
| UniProt Gene Name: | GABRG2 |
| UniProt Entry Name: | GBRG2_HUMAN |
 | Western blot analysis of extracts of various cell lines, using GABRG2 antibody (CAB1733) 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: 20s. |
Related Products
Anti-NCOA3 Antibody (CAB17330)
Anti-c-Myc Antibody (CAB17332)
Anti-ROR2 Antibody (CAB17331)
