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  2. 蛋白
  3. 重組蛋白
  4. Recombinant Human Sodium channel protein type 8 subunit alpha (SCN8A), partial

Recombinant Human Sodium channel protein type 8 subunit alpha (SCN8A), partial

  • 中文名稱：
    人SCN8A重組蛋白
  • 貨號(hào)：
    CSB-YP891989HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SCN8A重組蛋白
  • 貨號(hào)：
    CSB-EP891989HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SCN8A重組蛋白
  • 貨號(hào)：
    CSB-EP891989HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人SCN8A重組蛋白
  • 貨號(hào)：
    CSB-BP891989HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SCN8A重組蛋白
  • 貨號(hào)：
    CSB-MP891989HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    CerIII; CIAT; EIEE13; hNa6/Scn8a voltage gated sodium channel; MED; Motor endplate disease; NaCh 6; NaCh6; Nav 1.6; Nbna1; peripheral nerve protein type 4; PN 4; PN4; SCN8A; SCN8A_HUMAN; Sodium channel protein type 8 alpha subunit; Sodium channel protein type 8 subunit alpha; Sodium channel protein type VIII alpha subunit; Sodium channel protein type VIII subunit alpha; Sodium channel voltage gated type VIII alpha; Sodium channel voltage gated type VIII alpha polypeptide; Sodium channel voltage gated type VIII alpha subunit; Voltage gated sodium channel subunit alpha Nav1.6; Voltage-gated sodium channel subunit alpha Nav1.6
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Partial
  • 蛋白標(biāo)簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項(xiàng)：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    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.; In macrophages and melanoma cells, may participate in the control of podosome and invadopodia formation.
  • 基因功能參考文獻(xiàn)：
    1. These results expand the range of SCN8A variants in epileptic encephalopathy patients and illustrate the necessity of ongoing reanalysis of negative exome sequences, as advances in the knowledge of disease genes and their annotations will permit new diagnoses to be made. PMID: 29121005
    2. Authors introduced mutations into Nav1.7 and Nav1.6 that either enhance or impair slow inactivation (SI) in order to investigate their effects on resurgent currents. The results show that enhanced SI is accompanied by impaired resurgent currents, which suggests that SI may interfere with open-channel block. PMID: 27174182
    3. Study reports several novel variants in SCN8A that were identified by gene panel analysis in patients with epilepsy and other neurodevelopmental disorders. The predominant pathogenic mechanism appears to involve disruption of channel inactivation, leading to gain-of-function effects. PMID: 27875746
    4. SCN8A mutation is not only associated with epileptic encephalopathy, but also can be the pathogenic cause of some benign phenotypes, such as BFIS/ICCA, especially the inherited mutations. PMID: 28923014
    5. This study demonstrated that SCN8A - I1327V is a gain-of-function mutation with altered features that are predicted to increase neuronal excitability and seizure susceptibility. Phenytoin is an effective inhibitor of the mutant channel and may be of use in treating patients with gain-of-function mutations of SCN8A. PMID: 27375106
    6. Epilepsy-associated mutations in the voltage-gated sodium channel Nav1.6, but not Nav1.1, upregulate resurgent currents; cannabidiol preferentially targets these currents. PMID: 27267376
    7. Either the FGF14(V160A) or the FGF14(K74A/I76A) mutation was sufficient to abolish the FGF14-dependent regulation of peak transient Na(+) currents and the voltage-dependent activation and steady-state inactivation of Nav1.6; but only V160A with a concomitant alanine mutation at Tyr-158 could impede FGF14-dependent modulation of the channel fast inactivation. PMID: 26994141
    8. we report an infant and his father with early onset focal epileptic seizures but without cognitive or neurological impairment in whom next generation sequence analysis identified a heterozygous mutation (c.5630A > G, p. (Asn1877Ser)) in the SCN8A gene PMID: 27210545
    9. the calpain-dependent cleavage of Nav1.6 channels expressed in human embryonic kidney (HEK) 293 cells caused the upregulation of I(NaP) PMID: 26974309
    10. Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes. PMID: 26677014
    11. These data strengthen previous findings linking gain-of-function mutations of SCN8A with EIEE and demonstrate the importance of functional testing in establishing the pathogenicity of de novo mutations. PMID: 25725044
    12. Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma is reported. There was no NDUFC2 differential expression in colorectal carcinoma. PMID: 25804238
    13. Epileptic encephalopathy related to mutations in the SCN8A genes. PMID: 25818041
    14. SCN8A encephalopathy presents in infancy with multiple seizure types. PMID: 25568300
    15. The results of this study suggested that SCN8A mutation cause early onset epilepsy and intellectual disability. PMID: 25785782
    16. identified the PI3K/Akt pathway, the cell-cycle regulator Wee1 kinase, and protein kinase C (PKC) as prospective regulatory nodes of neuronal excitability through modulation of the FGF14:Nav1.6 complex. PMID: 25659151
    17. Data support the contribution of gain-of-function mutations of Nav1.6 (de novo variant p.Thr767Ile) that increase excitatory pyramidal neuron excitability PMID: 24874546
    18. SCN8A mutations can cause variable phenotypes, most of which can be diagnosed as unclassified early onset epileptic encephalopathies, and rarely as malignant migrating partial seizures in infancy. PMID: 24888894
    19. inhibition of GSK3 reduces the assembly of the FGF14.Nav channel complex, modifies FGF14-dependent regulation of Na(+) currents, and induces dissociation and subcellular redistribution of the native FGF14.Nav channel complex in hippocampal neurons. PMID: 23640885
    20. Discovered a de novo heterozygous missense mutation (c.5302A>G [p.Asn1768Asp]) in the voltage-gated sodium-channel gene SCN8A in the proband. PMID: 22365152
    21. We conclude that Na(V) 1.6 is upregulated in CaC and could serve as a novel molecular marker for the metastatic behavior of this carcinoma. PMID: 21630263
    22. The beta-subunits differentially regulate the expression and gating of Nav1.8 and Nav1.6 in dorsal root ganglion neurons. PMID: 21562192
    23. Genetic variants of the SCN8A voltage-gated ion channel influence not only the phenotype of mice carrying the SCN1A mutation but also the seizure frequency. PMID: 21156207
    24. An important mechanism of electroacupuncture therapy is its regulation of Nav1.6 and Nav1.1 expression after ischemia. PMID: 20483028
    25. Results show no significant difference in the size or immunofluorescence staining intensity of Na(v)1.6 nodal accumulations located at either typical or atypical nodal sites within axons in normal samples when compared to painful samples. PMID: 20600647
    26. Our findings suggest that the SCN8A gene may be involved in the susceptibility to suicidal behavior among psychiatric disorder patients in the Han Chinese population. PMID: 20632842
    27. Significant up-regulation of mRNA and protein for Nav1.6 is observed in rat hippocampal neurons following fluid percussion traumatic brain injury in an animal trial. PMID: 20421839
    28. Using the whole-cell configuration of the patch-clamp technique, we investigated the Na(v)1.6 transient and persistent currents in HEK-293 cells. PMID: 20204400
    29. Beta-scorpion toxin enhance channel activation, which could make it a model drug to replace deep brain stimulation of the subthalamic nucleus in patients with Parkinson disease. PMID: 16702217
    30. Mmbrane-binding domain of ankyrin-G is critical for reducing the persistent sodium current of Nav1.6. PMID: 16775201
    31. Different mechanisms underlie axonal degeneration in acute and chronic multiple sclerosis, with axonal injury at sites of coexpression of Nav1.6 and sodium-calcium exchanger in acute lesions but independent of coexpression in chronic lesions. PMID: 17805013
    32. results demonstrate that genetic interactions can alter seizure severity and support the hypothesis that genetic modifiers contribute to the clinical variability observed in severe myoclonic epilepsy of infancy PMID: 17881658
    33. The data of this study suggested that mutations of SCN8A are unlikely to be a major cause of autosomal dominant essential tremor in Caucasian patients. PMID: 18718804
    34. he results of this study indicate that SCN8A may be a potential susceptibility gene for bipolar disorder in the Han Chinese population. PMID: 18812204
    35. a variant of NaV1.6 participates in the control of podosome and invadopodia formation and suggest that intracellular sodium release mediated by NaV1.6 may regulate cellular invasion of macrophages and melanoma cells. PMID: 19136557

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  • 相關(guān)疾?。?/div>
    Cognitive impairment with or without cerebellar ataxia (CIAT); Epileptic encephalopathy, early infantile, 13 (EIEE13); Seizures, benign familial infantile, 5 (BFIS5)
  • 亞細(xì)胞定位：
    Cell membrane; Multi-pass membrane protein. Cell projection, axon.; [Isoform 5]: Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane.
  • 蛋白家族：
    Sodium channel (TC 1.A.1.10) family, Nav1.6/SCN8A subfamily
  • 組織特異性：
    Expressed in the hippocampus with increased expression in epileptic tissue compared to normal adjacent tissue (at protein level). Isoform 5: Expressed in non-neuronal tissues, such as monocytes/macrophages.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 10596

    OMIM: 600702

    KEGG: hsa:6334

    STRING: 9606.ENSP00000346534

    UniGene: Hs.436550