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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.
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.
| Cat.No | ACP03659 | Target Name | NEFH |
|---|---|---|---|
| Target Synonyms | 200 kDa neurofilament protein; CMT2CC; Nefh; Neurofilament heavy polypeptide 200kDa; Neurofilament heavy polypeptide; Neurofilament triplet H protein; NF H; NF-H; NFH; NFH_HUMAN | Form | Liquid or Lyophilized powder |
| Expression System | E.coli | Expression Range | 1-413aa |
| Mol Weight | 65.6kDa | Protein Length | Partial |
| Purity | Greater than 85% as determined by SDS-PAGE. | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | P12036 |
|---|
Uniprot Id
P12036
Target Species
Human
Target Name
NEFH
Target Full Name
Neurofilament heavy polypeptide
Target 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.
Target Involvement
Amyotrophic lateral sclerosis (ALS); Charcot-Marie-Tooth disease 2CC (CMT2CC)
Target Subcellular Location
Cytoplasm, cytoskeleton. Cell projection, axon.
Target Protein Families
Intermediate filament family
Target Research Area
Neuroscience
Target Synonyms
200 kDa neurofilament protein; CMT2CC; Nefh; Neurofilament heavy polypeptide 200kDa; Neurofilament heavy polypeptide; Neurofilament triplet H protein; NF H; NF-H; NFH; NFH_HUMAN
Target Background
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene.
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