SCN1B Antibody, FITC conjugated

說明書

中文名稱：

SCN1B兔多克隆抗體, FITC偶聯
貨號：

CSB-PA020835LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) SCN1B Polyclonal antibody
Uniprot No.：

Q07699
基因名：

SCN1B
別名：

GEFSP1 antibody; SCN1B antibody; SCN1B_HUMAN antibody; sodium channel beta 1 subunit antibody; Sodium channel subunit beta 1 antibody; Sodium channel subunit beta-1 antibody; Sodium channel voltage gated type I beta antibody; Sodium channel voltage gated type I beta subunit antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Sodium channel subunit beta-1 protein (44-156AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

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

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
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.

產品評價

靶點詳情

功能：

Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A.; Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth. Has no regulatory function on the SCN2A sodium channel complex.
基因功能參考文獻：
1. we confirm the recessive inheritance of 2 novel SCN1B mutations in 5 children from 3 families with developmental epileptic encephalopathy. The recessive inheritance and early death in these patients is consistent with the Dravet-like phenotype observed in Scn1b(-/-) mice. PMID: 28218389
2. This report provides the first genetic evidence of SCN1B mutation causing the Benign Familial Infantile Epilepsy (BFIE) phenotype. PMID: 28566192
3. Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome. PMID: 26179811
4. SCN1B gene mutations that reduce sodium channel current may provide a mechanistic link between Atrioventricular nodal reentrant tachycardia and Brugada syndrome and predispose to expression of both phenotypes. PMID: 25998140
5. In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes. PMID: 25757662
6. We also identified an SCN1B T189M variant in 2 probands with lone AF and in 1 of 250 control subjects. PMID: 26129877
7. Study showed that the human SCN1B C121W epilepsy mutation leads to decreased axon initial segments expression of SCN1B in heterozygous CW mice and a complete lack of SCN1B in homozygous WW mice PMID: 25421039
8. data revealed SCN1Bb as a susceptibility gene responsible for LQTS PMID: 24662403
9. High SCN1B expression is associated with increased tumour growth and metastasis in breast cancer. PMID: 24729314
10. Hippocampal networks of a NaV beta1 transgenic mouse model of genetic epilepsy show enhanced excitability. PMID: 24605816
11. experimental data indicate that sodium channel voltage-gated type I beta subunit (Navbeta1b)/H162P results in reduced sodium channel activity functionally affecting the ventricular action potential. PMID: 24561865
12. SCN1B mutation is not a common cause of Dravet syndrome. PMID: 23182416
13. results suggest that R214Q variation in SCN1Bb is a functional polymorphism that may serve as a modifier of the substrate responsible for Brugada syndrome or SIDS phenotypes PMID: 22155597
14. Our study supports the association of SCN1Bb with BrS. PMID: 22284586
15. A novel seizure-causing mechanism is suggested for NaV1.2beta1 in patients harboring mutant C121W subunit: increased channel excitability at elevated temperature. PMID: 22292491
16. SCN1B is the gene responsible in one out of six Tunisian families with febrile seizures (FS) that may contribute susceptibility for the five others. PMID: 21040232
17. This study demonstrated that SCN1B may not be related to the occurrence of benign partial epilepsy in infancy or convulsions with gastroenteritis. PMID: 21882141
18. The results suggested that beta1B p.G257R may contribute to epilepsy through a mechanism that includes intracellular retention resulting in aberrant neuronal pathfinding. PMID: 21994374
19. Enhanced tubulin polymerization reduces sarcolemmal Na(v)1.5 expression and I(Na) amplitude in a beta1-subunit-independent fashion and causes I(Na) fast and slow inactivation impairment in a beta1-subunit-dependent way PMID: 19861310
20. The IVS3+ 2996(TTA)8 allele in SCN1B commonly seen in Japanese would not be pathogenic itself but may render male, middle-aged Japanese more susceptible to Brugada syndrome PMID: 20137763
21. Mutation of the sodium channel subunit SCN1B linked again to generalized epilepsy with febrile seizures PMID: 12011299
22. Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. PMID: 12486163
23. the expression of NaCh beta1 subunit protein in astrocytes is plastic, and indicate a novel mechanism for modulation of glial function in gliosis-associated pathologies. PMID: 12677453
24. The IVS2-2A>C transition deletes AA 70-74 in the central hydrophobic core of the extracellular Ig domain, disrupting the hydrophobic interaction in the Ig-like fold & proper [beta]1 folding & causing a persistent inward Na+ current & hyperexcitability. PMID: 14504340
25. identification and characterization of a novel splicing variant; functional studies in oocytes demonstrate that the beta1B subunit increases the ionic current when coexpressed with the tetrodotoxin sensitive channel, NaV1.2 PMID: 14622265
26. Although data suggest that SCN1B activity does not directly influence membrane potential, intracellular Ca(2+) release, or proliferation in normal human pulmonary artery smooth muscle cells, its physiological functions remain unresolved. PMID: 16052353
27. Use of these Na+ channel models in simple neuron models revealed that both mutations(R85C, R85H) cause an increase in excitability but the R85H mutation was more excitable. PMID: 17604911
28. In summary, the mutant beta1 subunits essentially fail to modulate alpha subunits which could increase neuronal excitability and underlie GEFS+ pathogenesis. PMID: 17629415
29. This suggests that mutations in the SCN1B gene is not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia. PMID: 17927801
30. SCN1B mutations were not found to directly cause long QT syndrome. PMID: 18052691
31. In patient with epilepsy were carried the mutation (C121W) of SCN1B. PMID: 18093548
32. Febrile Seizure is not related to the most common mutations of SCN1B in two Tunisian families PMID: 18175077
33. SCN1B may have a role in human arrhythmia susceptibility PMID: 18464934
34. The data of this study suggested that SCN1B p.R125C is an autosomal recessive cause of Dravet syndrome through functional gene inactivation. PMID: 19710327
35. Loss of function mutations in sodium channel beta-subunits were identified in patients with atrial fibrillation and were associated with a distinctive ECG phenotype PMID: 19808477
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相關疾病：

Generalized epilepsy with febrile seizures plus 1 (GEFS+1); Brugada syndrome 5 (BRGDA5); Atrial fibrillation, familial, 13 (ATFB13); Epileptic encephalopathy, early infantile, 52 (EIEE52)
亞細胞定位：

[Isoform 1]: Cell membrane; Single-pass type I membrane protein. Perikaryon. Cell projection. Cell projection, axon.; [Isoform 2]: Perikaryon. Cell projection. Secreted.
蛋白家族：

Sodium channel auxiliary subunit SCN1B (TC 8.A.17) family
組織特異性：

The overall expression of isoform 1 and isoform 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in heart, placenta, lung,
數據庫鏈接：

HGNC: 10586

OMIM: 600235

KEGG: hsa:6324

STRING: 9606.ENSP00000396915

UniGene: Hs.436646

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