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  4. Recombinant Human Neurofilament heavy polypeptide (NEFH), partial

Recombinant Human Neurofilament heavy polypeptide (NEFH), partial

In Stock
  • 货号：
    CSB-EP015686HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
    • Based on the SEQUEST from database of E.coli host and target protein, the LC-MS/MS Analysis result of CSB-EP015686HU could indicate that this peptide derived from E.coli-expressed Homo sapiens (Human) NEFH.
    • Based on the SEQUEST from database of E.coli host and target protein, the LC-MS/MS Analysis result of CSB-EP015686HU could indicate that this peptide derived from E.coli-expressed Homo sapiens (Human) NEFH.
  • 其他：

产品详情

  • 纯度：
    Greater than 85% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 别名：
    200 kDa neurofilament protein; CMT2CC; Nefh; Neurofilament heavy polypeptide 200kDa; Neurofilament heavy polypeptide; Neurofilament triplet H protein; NF H; NF-H; NFH; NFH_HUMAN
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    65.6kDa
  • 表达区域：
    1-413aa
  • 氨基酸序列
    MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRI
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-SUMO-tagged and C-terminal Myc-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    3-7 business days
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • 产品描述：

    The fusion tag N-terminal 10xHis-SUMO tag and C-terminal Myc tag gene was added to the gene sequence corresponding to the E.coli of the human NEFH protein to form the recombinant DNA. The recombinant DNA was cloned into the expression vector and then transformed into the E.coli for expression. Following purification, the product is the recombinant human NEFH protein carrying N-terminal 10xHis-SUMO tag and C-terminal Myc tag. The SDS-PAGE assessed the purity of this recombinant NEFH protein up to 85%. It had an apparent molecular weight of approximately 60 kDa. This recombinant NEFH protein may be used in neuroscience research.

    NEFH is a gene encoding a protein named neurofilament heavy polypeptide (abbreviated NEFH) in human and belongs to intermediate filament family. This protein combines with medium and light subunits to make neurofilaments, which form the framework for nerve cells. Several studies have indicated that NEFH is expressed in podocytes during the disease course and that it prevents the reduction in synaptopodin expression and detachment of podocytes. A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC. Currently, reported diseases associated with NEFH include Charcot-Marie-Tooth Disease, Axonal, Type 2Cc and Amyotrophic Lateral Sclerosis.

  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks.
  • 基因功能参考文献：
    1. In newborns undergoing cardiac surgery, phosphorylated axonal neurofilament heavy chain was decreased at 0 hours in both the cardiopulmonary bypass and deep hypothermic circulatory arrest groups compared to baseline. PMID: 29945509
    2. Phosphoneurofilament heavy chain level was higher in ALS patients than in controls PMID: 27538346
    3. Data suggest that high CSF NfH levels are an early predictor of later brain and spinal cord atrophy in multiple sclerosis patients. PMID: 27207456
    4. Findings in the dorsolateral prefrontal cortex in schizophrenia provide evidence of altered proteins involved in synaptic function (FABP4), cytoarchitecture organization (NEFH), and circadian molecular clock signaling (CSNK1E), which may be contributing to the cognitive and/or negative symptoms in this disorder. FABP4, CSNK1E and NEFH could become potentially useful biomarkers for schizophrenia. PMID: 27236410
    5. Unique deletions of two nucleotides causing frameshifts near the end of the NEFH coding sequence were identified in two Charcot-Marie-Tooth disease families. Using electroporation of chick embryo spinal cord, confirmed that NEFH mutants form aggregates in vivo and trigger apoptosis of spinal cord neurons. PMID: 28709447
    6. This study confirmed the general applicability of the monocentric obtained cut-off values for neurofilamens in ALS, especially for pNfH PMID: 27415180
    7. data support the use of Cebrospinal fluid phosphorylated NFH as a prognostic biomarker for amyotrophic lateral sclerosis. PMID: 28628244
    8. Study found a significant correlation between values of 8-hydroxy-2'-deoxyguanosine and phosphorylated NF-H only in clinically isolated syndrome group. While the plasma values of 8-hydroxy-2'-deoxyguanosine reflect the degree of acute demyelination in clinically isolated syndrome, phosphorylated NF-H values reflect that in relapsing-remitting multiple sclerosis. PMID: 27295058
    9. Results provide evidence that in particular pNfH can be used as a good diagnostic biomarker of ALS at the diagnostic stage. Moreover, results indicate that NfL may be useful in monitoring disease progression in a subset of patients. PMID: 28500227
    10. Level of neurofilament heavy chain and light chains were significantly elevated in the cerebrospinal fluid of Amyotrophic Lateral Sclerosis (ALS) patients compared to healthy controls/controls without parenchymal central nervous system involvement and ALS mimic disease patients. PMID: 27732645
    11. Study found a significant increase of pNF-H levels in both plasma and CSF in amyotrophic lateral sclerosis patients PMID: 27423602
    12. Studied diagnostic Value of Serum Levels of GFAP, pNF-H, and NSE Compared With Clinical Findings in Severity Assessment of Human Traumatic Spinal Cord Injury. PMID: 25341992
    13. This study demonstrated that Higher NF-L concentrations (beta = -0.26) were associated with functional decline in patients with vascular burden. PMID: 25633679
    14. Phospho-NFH levels were significantly higher in amyotrophic lateral sclerosis patients in comparison with controls, in particular in fast progressors. PMID: 25261856
    15. Data identified NEFH methylation as a candidate epigenetic marker for prognosis of RCC patients as well as prediction of anti-vascular endothelial growth factor-based therapy response. PMID: 24464810
    16. pNFL-H may be useful in determining which individuals require CT imaging to assess the severity of their injury PMID: 25192482
    17. Subconcussive repetitive trauma in amateur boxing causes a mild traumatic brain injury that may be diagnosed by CSF analysis of expressed pNFH, even without unconsciousness or concussion symptoms. PMID: 24260563
    18. Absence of axonal neurofilaments in NFH-LacZ transgenic mice compromises axonal regeneration. PMID: 23079625
    19. In conclusion, pNfH represents a promising candidate for inclusion in a panel of diagnostic and prognostic biomarkers. PMID: 23134506
    20. CSF and intrathecal levels and CSF/serum ratios of anti-NFH antibodies were increased in the CIS patients early developing multiple sclerosis. PMID: 23632043
    21. These data support further study of pNF-H in CSF, serum and plasma as a potential amyotrophic lateral sclerosis biomarker PMID: 23117489
    22. NF-H levels increase significantly faster in children who have a worse Glasgow Outcome Scale following traumatic brain injury, or died. PMID: 21976236
    23. significant in vivo information on the pathophysiology of stroke may be obtained by the determination of NfH(SMI35). PMID: 21792676
    24. Serum neurofilament protein H levels were significantly elevated in stroke patients compared to healthy controls. PMID: 21349546
    25. Data suggest that a deficiency of cellular neuroprotective mechanisms (decrease of sAPP) is linked to progressive neuro-axonal damage (increase of NfH(SMI35)) and to progression of disease. PMID: 21858182
    26. Data show that RNA interference-mediated knockdown of NEFH accelerated ESCC cell growth in culture and increased tumorigenicity in vivo. PMID: 20140245
    27. NEFH is phosphorylated at serine 493 by GSK3b PMID: 12130654
    28. NEFH gene is involved in the pathogenesis of sporadic motor neuron disease PMID: 14722583
    29. mutations in neurofilaments are possible risk factors that may contribute to pathogenesis in amyotrophic lateral sclerosis in conjunction with one or more additional genetic or environmental factors, but are not significant primary causes PMID: 16084104
    30. A subgroup of FTD patients had remarkably high CSF levels of NfH. The degree of NfH phosphorylation was increased in FTD compared to both other groups. PMID: 17290105
    31. Isomerization of lys-ser-pro repeat residues that are abundant in NF-H tail domains by Pin1 can regulate NF-H phosphorylation. PMID: 17626162
    32. analysis of major neurofilament subunit NF-H levels in blood and cerebrospinal fluid differentiates between patients with poor and favorable outcomes. PMID: 18319731
    33. Pin1 as a possible modulator of stress-induced NF-H phosphorylation as seen in neurodegenerative disorders like AD and amyotrophic lateral sclerosis PMID: 18635547
    34. Elevated pNF-H released into the serum of some affected Leber hereditary optic neuropathy patients may suggest that axonal degeneration occurs at some point after loss of visual function. PMID: 19104679
    35. cerebrospinal fluid phosphorylated forms of neurofilament heavy subunit are not molecular markers of axonal damage for HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) probably due to the slow progression of this disease. PMID: 19678766

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  • 相关疾病：
    Amyotrophic lateral sclerosis (ALS); Charcot-Marie-Tooth disease 2CC (CMT2CC)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton. Cell projection, axon.
  • 蛋白家族：
    Intermediate filament family
  • 数据库链接：

    HGNC: 7737

    OMIM: 105400

    KEGG: hsa:4744

    STRING: 9606.ENSP00000311997

    UniGene: Hs.198760