Rabbit SCN1A/SCN2A/SCN3A/SCN4A/SCN5A/SCN8A/SCN10A/SCN11A Polyclonal Antibody | anti-SCN1A antibody
SCN1A/SCN2A/SCN3A/SCN4A/SCN5A/SCN8A/SCN10A/SCN11A Antibody
IHC: 1:100-1:300
IF: 1:200-1:1000
ELISA: 1:20000
NCBI and Uniprot Product Information
NCBI Description
Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
Uniprot Description
SCN1A: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Defects in SCN1A are the cause of generalized epilepsy with febrile seizures plus type 2 (GEFS+2). 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 SCN1A 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. Defects in SCN1A are a cause of intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC). ICEGTC is a disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. Defects in SCN1A are the cause of familial hemiplegic migraine type 3 (FHM3). FHM3 is an autosomal dominant severe subtype of migraine with aura characterized by some degree of hemiparesis during the attacks. The episodes are associated with variable features of nausea, vomiting, photophobia, and phonophobia. Age at onset ranges from 6 to 15 years. FHM is occasionally associated with other neurologic symptoms such as cerebellar ataxia or epileptic seizures. A unique eye phenotype of elicited repetitive daily blindness has also been reported to be cosegregating with FHM in a single Swiss family. Defects in SCN1A are the cause of familial febrile convulsions type 3A (FEB3A); also known as familial febrile seizures 3. Febrile convulsions are seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Channel, sodium; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 2q24.3
Cellular Component: cell soma; plasma membrane; T-tubule; voltage-gated sodium channel complex; Z disc
Molecular Function: sodium ion binding; voltage-gated sodium channel activity
Biological Process: action potential propagation; adult walking behavior; generation of action potential; neuromuscular process controlling posture; positive regulation of defense response to virus by host; regulation of postsynaptic membrane potential; sodium ion transport
Disease: Epileptic Encephalopathy, Early Infantile, 6; Generalized Epilepsy With Febrile Seizures Plus, Type 2; Migraine, Familial Hemiplegic, 3
Research Articles on SCN1A
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Product Notes
The SCN1A scn1a (Catalog #AAA7116665) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The SCN1A/SCN2A/SCN3A/SCN4A/SCN5A/SCN8A/SCN10A/SCN11A Antibody reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's SCN1A/SCN2A/SCN3A/SCN4A/SCN5A/SCN8A/SCN10A/SCN11A can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF), ELISA (EIA). WB: 1:500-1:2000 IHC: 1:100-1:300 IF: 1:200-1:1000 ELISA: 1:20000. Researchers should empirically determine the suitability of the SCN1A scn1a for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "SCN1A/SCN2A/SCN3A/SCN4A/SCN5A/SCN8A/SCN10A/SCN11A, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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