Product Details

Purity

Greater than 85% as determined by SDS-PAGE.

Target Names

NEFH

Uniprot No.

P12036

Research Area

Neuroscience

Alternative Names

200 kDa neurofilament protein; CMT2CC; Nefh; Neurofilament heavy polypeptide 200kDa; Neurofilament heavy polypeptide; Neurofilament triplet H protein; NF H; NF-H; NFH; NFH_HUMAN

Species

Homo sapiens (Human)

Source

E.coli

Expression Region

1-413aa

Target Protein Sequence

MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRI
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.

Mol. Weight

65.6kDa

Protein Length

Partial

Tag Info

N-terminal 10xHis-SUMO-tagged and C-terminal Myc-tagged

Form

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.

Buffer

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.

Reconstitution

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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

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.

Lead Time

3-7 business days

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet & COA

Please contact us to get it.

Description

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.

Target Background

Function

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.

Gene References into Functions

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
Phosphoneurofilament heavy chain level was higher in ALS patients than in controls PMID: 27538346
Data suggest that high CSF NfH levels are an early predictor of later brain and spinal cord atrophy in multiple sclerosis patients. PMID: 27207456
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
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
This study confirmed the general applicability of the monocentric obtained cut-off values for neurofilamens in ALS, especially for pNfH PMID: 27415180
data support the use of Cebrospinal fluid phosphorylated NFH as a prognostic biomarker for amyotrophic lateral sclerosis. PMID: 28628244
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
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
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
Study found a significant increase of pNF-H levels in both plasma and CSF in amyotrophic lateral sclerosis patients PMID: 27423602
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
This study demonstrated that Higher NF-L concentrations (beta = -0.26) were associated with functional decline in patients with vascular burden. PMID: 25633679
Phospho-NFH levels were significantly higher in amyotrophic lateral sclerosis patients in comparison with controls, in particular in fast progressors. PMID: 25261856
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
pNFL-H may be useful in determining which individuals require CT imaging to assess the severity of their injury PMID: 25192482
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
Absence of axonal neurofilaments in NFH-LacZ transgenic mice compromises axonal regeneration. PMID: 23079625
In conclusion, pNfH represents a promising candidate for inclusion in a panel of diagnostic and prognostic biomarkers. PMID: 23134506
CSF and intrathecal levels and CSF/serum ratios of anti-NFH antibodies were increased in the CIS patients early developing multiple sclerosis. PMID: 23632043
These data support further study of pNF-H in CSF, serum and plasma as a potential amyotrophic lateral sclerosis biomarker PMID: 23117489
NF-H levels increase significantly faster in children who have a worse Glasgow Outcome Scale following traumatic brain injury, or died. PMID: 21976236
significant in vivo information on the pathophysiology of stroke may be obtained by the determination of NfH(SMI35). PMID: 21792676
Serum neurofilament protein H levels were significantly elevated in stroke patients compared to healthy controls. PMID: 21349546
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
Data show that RNA interference-mediated knockdown of NEFH accelerated ESCC cell growth in culture and increased tumorigenicity in vivo. PMID: 20140245
NEFH is phosphorylated at serine 493 by GSK3b PMID: 12130654
NEFH gene is involved in the pathogenesis of sporadic motor neuron disease PMID: 14722583
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
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
Isomerization of lys-ser-pro repeat residues that are abundant in NF-H tail domains by Pin1 can regulate NF-H phosphorylation. PMID: 17626162
analysis of major neurofilament subunit NF-H levels in blood and cerebrospinal fluid differentiates between patients with poor and favorable outcomes. PMID: 18319731
Pin1 as a possible modulator of stress-induced NF-H phosphorylation as seen in neurodegenerative disorders like AD and amyotrophic lateral sclerosis PMID: 18635547
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
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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Involvement in disease

Amyotrophic lateral sclerosis (ALS); Charcot-Marie-Tooth disease 2CC (CMT2CC)

Subcellular Location

Cytoplasm, cytoskeleton. Cell projection, axon.

Protein Families

Intermediate filament family

Database Links

HGNC: 7737

OMIM: 105400

KEGG: hsa:4744

STRING: 9606.ENSP00000311997

UniGene: Hs.198760

Code	CSB-EP015686HU
Abbreviation	Recombinant Human NEFH protein, partial
MSDS	MSDS Datasheet
Size	$224
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Image	(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.
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Recombinant Human Neurofilament heavy polypeptide (NEFH), partial

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