SCN8A Antibody

說明書

中文名稱：

SCN8A兔多克隆抗體
貨號：

CSB-PA891989ESR1HU
規(guī)格：

￥440
圖片：
Immunohistochemistry of paraffin-embedded human brain tissue using CSB-PA891989ESR1HU at dilution of 1:100
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) SCN8A Polyclonal antibody
Uniprot No.：

Q9UQD0
基因名：

SCN8A
別名：

CerIII antibody; CIAT antibody; EIEE13 antibody; hNa6/Scn8a voltage gated sodium channel antibody; MED antibody; Motor endplate disease antibody; NaCh 6 antibody; NaCh6 antibody; Nav 1.6 antibody; Nbna1 antibody; peripheral nerve protein type 4 antibody; PN 4 antibody; PN4 antibody; SCN8A antibody; SCN8A_HUMAN antibody; Sodium channel protein type 8 alpha subunit antibody; Sodium channel protein type 8 subunit alpha antibody; Sodium channel protein type VIII alpha subunit antibody; Sodium channel protein type VIII subunit alpha antibody; Sodium channel voltage gated type VIII alpha antibody; Sodium channel voltage gated type VIII alpha polypeptide antibody; Sodium channel voltage gated type VIII alpha subunit antibody; Voltage gated sodium channel subunit alpha Nav1.6 antibody; Voltage-gated sodium channel subunit alpha Nav1.6 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Sodium channel protein type 8 subunit alpha protein (1350-1440AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA, IHC

推薦稀釋比：

Application	Recommended Dilution
IHC	1:20-1:200

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

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：
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)疾病：

Cognitive impairment with or without cerebellar ataxia (CIAT); Epileptic encephalopathy, early infantile, 13 (EIEE13); Seizures, benign familial infantile, 5 (BFIS5)
亞細胞定位：

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)庫鏈接：

HGNC: 10596

OMIM: 600702

KEGG: hsa:6334

STRING: 9606.ENSP00000346534

UniGene: Hs.436550

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