NEFH
GeneName
NEFH
Summary
NEFH, also known as neurofilament, NFH, or NF H, is a 112 kDa protein that is a vital component of the neuronal cytoskeleton. It is primarily expressed in neurons, particularly in the axonal compartment, where it contributes to the structural integrity and stability of axons. NEFH plays a significant role in the assembly and organisation of neurofilament bundles and is involved in various cellular processes such as axon development, axonogenesis, and the regulation of organelle transport along microtubules. Its presence in the cytoplasm and at the postsynaptic density highlights its importance in synaptic function and neuronal communication.
Importance
NEFH is relevant to: - Neurodegenerative diseases, as alterations in neurofilament proteins are associated with conditions such as amyotrophic lateral sclerosis and frontotemporal dementia - Understanding neuronal structure and function, given its role in maintaining axonal integrity and facilitating intracellular transport - Investigating the mechanisms of axon regeneration and repair, which are critical for recovery after nerve injury - Research into synaptic plasticity and modulation of chemical synaptic transmission, contributing to our understanding of learning and memory processes
Top Products
For researchers investigating NEFH, we recommend two excellent primary antibodies. The first is the well-cited polyclonal antibody, Anti-Neurofilament heavy polypeptide antibody (ab4680), which has garnered 181 citations, reflecting its strong reputation in the field. This antibody is suitable for immunohistochemistry (IHC), immunocytochemistry (ICC), and western blotting (WB), making it a versatile choice for various applications.In addition, we offer the recombinant antibody, Anti-Neurofilament heavy polypeptide antibody [EPR20020] (ab207176). This monoclonal antibody has been validated for the same applications—IHC, ICC, and WB—and has 39 citations, indicating its growing acceptance among researchers. The recombinant nature of this product ensures batch-to-batch consistency, providing reliable results for your NEFH studies. The Human Neurofilament H ELISA Kit (ab272199) is an excellent option for researchers looking to measure Neurofilament H levels in their samples.
Abcam Product Citation Summary
The data indicates that NEFH antibodies are primarily used in immunocytochemistry and western blotting applications, particularly in studies involving human motoneurons and mouse sciatic nerve. The context of the studies includes investigations related to ALS and nerve injury, highlighting the relevance of NEFH in neurobiology and regenerative medicine.
Abcam Product Citation Table
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).
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.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Charcot-Marie-Tooth disease, axonal, type 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
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.
Sequence Similarities
Belongs to the intermediate filament family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cell projection
- Axon
Alternative names
KIAA0845, NFH, NEFH, Neurofilament heavy polypeptide, NF-H, 200 kDa neurofilament protein, Neurofilament triplet H protein
Database links
swissprot:P12036 entrezGene:4747 omim:162230 omim:162250 omim:162280 swissprot:P07196 swissprot:P07197 entrezGene:4741 entrezGene:4744