catalog number :
MBS821462
products full name :
Anti-Nav1.1 Antibody
products short name :
[Nav1.1]
products name syn :
[SCN1A; NAC1; SCN1; Sodium channel protein type 1 subunit alpha; Sodium channel protein brain I subunit alpha; Sodium channel protein type I subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.1; SCN2A; NAC2; SCN2A1; SCN2A2; Sodium channel protein type 2 subunit alpha; HBSC II; Sodium channel protein brain II subunit alpha; Sodium channel protein type II subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.2; SCN3A; KIAA1356; NAC3; Sodium channel protein type 3 subunit alpha; Sodium channel protein brain III subunit alpha; Sodium channel protein type III subunit alpha; Voltage-gated sodium channel subtype III; Voltage-gated sodium channel subunit alpha Nav1.3; SCN4A; Sodium channel protein type 4 subunit alpha; SkM1; Sodium channel protein skeletal muscle subunit alpha; Sodium channel protein type IV subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.4; SCN5A; Sodium channel protein type 5 subunit alpha; HH1; Sodium channel protein cardiac muscle subunit alpha; Sodium channel protein type V subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.5; SCN8A; MED; Sodium channel protein type 8 subunit alpha; Sodium channel protein type VIII subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.6; SCN9A; NENA; Sodium channel protein type 9 subunit alpha; Neuroendocrine sodium channel; hNE-Na; Peripheral sodium channel 1; PN1; Sodium channel protein type IX subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.7; SCN10A; Sodium channel protein type 10 subunit alpha; Peripheral nerve sodium channel 3; PN3; hPN3; Sodium channel protein type X subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.8; SCN11A; SCN12A; SNS2; Sodium channel protein type 11 subunit alpha; Peripheral nerve sodium channel 5; PN5; Sensory neuron sodium channel 2; Sodium channel protein type XI subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.9; hNaN]
other names :
[sodium channel protein type 1 subunit alpha isoform 1; Sodium channel protein type 1 subunit alpha; sodium channel protein type 1 subunit alpha; sodium channel protein type I subunit alpha; sodium channel protein, brain I alpha subunit; sodium channel voltage gated type 1 alpha subunit; voltage-gated sodium channel subunit alpha Nav1.1; sodium channel, voltage-gated, type I, alpha polypeptide; sodium channel, voltage-gated, type I, alpha subunit; Sodium channel protein brain I subunit alpha; Sodium channel protein type I subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.1]
products gene name :
[SCN1A]
products gene name syn :
[SCN2A; SCN3A; SCN4A; SCN5A; SCN8A; SCN9A; SCN10A; SCN11A]
other gene names :
[SCN1A; SCN1A; FEB3; FHM3; NAC1; SCN1; SMEI; EIEE6; FEB3A; HBSCI; GEFSP2; Nav1.1; NAC1; SCN1]
uniprot entry name :
SCN1A_HUMAN
reactivity :
Human, Mouse, Rat
specificity :
Recognizes endogenous levels of Nav1.1 protein.
purity :
The antibody was purified by immunogen affinity chromatography.
form :
Liquid in 0.42% Potassium phosphate, 0.87% Sodium chloride, pH 7.3, 30% glycerol, and 0.01% sodium azide.
storage stability :
Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C for one year. Avoid freeze/thaw cycles.
tested application :
Western Blot (WB), Immunohistochemistry (IHC)
app notes :
WB (1/500 - 1/1000), IH (1/100 - 1/200)
image1 heading :
Western Blot (WB)
image2 heading :
Immunohistochemistry (IHC)
other info2 :
Source: Rabbit. Immunogen: KLH-conjugated synthetic peptide encompassing a sequence within the center region of human Nav1.1. The exact sequence is proprietary.
products description :
Rabbit polyclonal antibody to Nav1.1
ncbi acc num :
NP_001159435.1
ncbi gb acc num :
NM_001165963.1
ncbi mol weight :
226,174 Da
ncbi pathways :
Axon Guidance Pathway (105688); Developmental Biology Pathway (477129); Dopaminergic Synapse Pathway (469199); Dopaminergic Synapse Pathway (469185); Interaction Between L1 And Ankyrins Pathway (161005); L1CAM Interactions Pathway (161003)
ncbi summary :
The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. 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, Jan 2011]
uniprot summary :
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: Membrane protein, integral; Channel, sodium; Membrane protein, multi-pass. Chromosomal Location of Human Ortholog: 2q24.3. Cellular Component: voltage-gated sodium channel complex; cell soma; T-tubule; plasma membrane; Z disc. Molecular Function: voltage-gated sodium channel activity. Biological Process: neuromuscular process controlling posture; action potential propagation; sodium ion transport; generation of action potential; adult walking behavior. Disease: Migraine, Familial Hemiplegic, 3; Generalized Epilepsy With Febrile Seizures Plus, Type 2; Epileptic Encephalopathy, Early Infantile, 6