SCN1A抗体
规格：1mg/1ml
英文名： SCN1A
别名： alpha; brain sodium channel type I; EIEE6; FEB3; FEB3A; FHM3; GEFS+2; GEFSP2; HBSC I; HBSCI; MIM 182390; NAC1; Nav 1.1; RBI; SCN1; Scn1a; SCN1A_HUMAN; SCN2A1; SMEI; sodium channel; Sodium channel prot
分子量： 229kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human SCN1A
交叉反应：Human, Mouse, Rat, Dog, Cow, Horse, Rabbit,
细胞定位：细胞膜
SCN1A抗体产品介绍：background: SCN1A 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 Function: 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. Subunit: The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Subcellular Location: Membrane; Multi-pass membrane protein. DISEASE: Defects in SCN1A are the cause of generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]. 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 seizureSCN1A抗体 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) [MIM:607208]; 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) [MIM:607208]. 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 migraine familial hemiplegic type 3 (FHM3) [MIM:609634]. 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) [MIM:604403]; also known as familial febrile seizures 3. Febrile convulsions are seizures associated with febrile episodes in childhood without any evidence of intracranial infection or SCN1A抗体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. Similarity: Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily. Contains 1 IQ domain. Gene ID: 6323 Database links: Entrez Gene: 6323 Human Entrez Gene: 20265 Mouse Entrez Gene: 81574 Rat Omim: 182389 Human SwissProt: P35498 Human SwissProt: P04774 Rat Unigene: 22654 Human Unigene: 365737 Mouse Unigene: 32079 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 电压阀门钠通道蛋白a1/癫痫相关蛋白抗体
SCN1A抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：神经生物学 通道蛋白 细胞膜受体
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid