Mouse Anti-NEFH Recombinant Antibody (CBWJN-0511) (CBMAB-N2215-WJ)

Name: Mouse Anti-NEFH Recombinant Antibody (CBWJN-0511)
SKU: CBMAB-N2215-WJ
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBWJN-0511

Application

ELISA, WB

Specificity

Human

Antibody Isotype

IgG

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Lyophilized

Buffer

PBS, pH 7.2

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

Target

Full Name

Neurofilament Heavy

Introduction

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. [provided by RefSeq, Oct 2008]

Entrez Gene ID

4744

UniProt ID

P12036

Alternative Names

Neurofilament Heavy; Neurofilament, Heavy Polypeptide 200kDa; Neurofilament Heavy Polypeptide; Neurofilament Triplet H Protein; 200 KDa Neurofilament Protein; NF-H; NFH; KIAA0845; CMT2CC;

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 (By similarity).

Biological Process

Axon development Source: BHF-UCL
Axonogenesis Source: BHF-UCL
Cell projection assembly Source: BHF-UCL
Cellular response to leukemia inhibitory factor Source: Ensembl
Intermediate filament bundle assembly Source: GO_Central
Microtubule cytoskeleton organization Source: Ensembl
Neurofilament bundle assembly Source: BHF-UCL
Neurofilament cytoskeleton organization Source: Ensembl
Peripheral nervous system neuron axonogenesis Source: Ensembl
Regulation of organelle transport along microtubule Source: BHF-UCL

Cellular Location

Cytoskeleton
Other locations
axon

Involvement in disease

Amyotrophic lateral sclerosis (ALS):
A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Charcot-Marie-Tooth disease 2CC (CMT2CC):
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

PTM

There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.
Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.
Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.

Theunissen, F., Anderton, R. S., Mastaglia, F. L., James, I., Bedlack, R., & Akkari, P. A. (2022). Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset. Scientific Reports, 12(1), 14739.

Marriott, H., Spargo, T. P., Khleifat, A. A., Fogh, I., Project MinE ALS Sequencing Consortium, Andersen, P. M., ... & Iacoangeli, A. (2022). Mutations in the tail domain of the neurofilament heavy chain gene increase the risk of amyotrophic lateral sclerosis. medRxiv, 2022-11.

Ando, M., Higuchi, Y., Okamoto, Y., Yuan, J., Yoshimura, A., Takei, J., ... & Takashima, H. (2022). An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families. Journal of Human Genetics, 67(7), 399-403.

Abu Hamdeh, S., Ciuculete, D. M., Sarkisyan, D., Bakalkin, G., Ingelsson, M., Schiöth, H. B., & Marklund, N. (2021). Differential DNA methylation of the genes for amyloid precursor protein, tau, and neurofilaments in human traumatic brain injury. Journal of neurotrauma, 38(12), 1679-1688.

Lin, F., Lin, W., Zhu, C., Lin, J., Zhu, J., Li, X. Y., ... & Huang, H. (2021). Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects. BMC Medical Genomics, 14, 1-8.

Yan, J., Qiao, L., Peng, H., Liu, A., Wu, J., & Huang, J. (2021). A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC. Neurological Sciences, 42, 757-763.

Jazar, E. G., Tarzjani, S. P. C., Sadeghi, Z., Alaie, S., & Fazeli, S. A. S. (2020). Neurofilament heavy chain gene polymorphism and risk of multiple sclerosis. Journal of Shahrekord University of Medical Sciences, 22(4), 155-158.

Gafson, A. R., Barthélemy, N. R., Bomont, P., Carare, R. O., Durham, H. D., Julien, J. P., ... & Matthews, P. M. (2020). Neurofilaments: neurobiological foundations for biomarker applications. Brain, 143(7), 1975-1998.

Ikenberg, E., Reilich, P., Abicht, A., Heller, C., Schoser, B., & Walter, M. C. (2019). Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family. Neuromuscular Disorders, 29(5), 392-397.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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For research use only. Not intended for any clinical use.

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