NEFM — Neurofilament Medium Chain

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NEFM — Neurofilament Medium Chain

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">NEFM — Neurofilament Medium Chain</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>NEFM</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Neurofilament Medium Chain</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>8q21.3</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/4741" target="_blank">4741</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104722" target="_blank">ENSG00000104722</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/162400" target="_blank">162400</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/P12036" target="_blank">P12036</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[ALS](/diseases/als), [Charcot-Marie-Tooth Disease](/diseases/charcot-marie-tooth), [Parkinson's Disease](/diseases/parkinsons-disease)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Motor neurons, Sensory neurons, Spinal cord, Brainstem, [Hippocampus](/brain-regions/hippocampus), Cerebral cortex</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

NEFM — Neurofilament Medium Chain

Introduction

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NEFM — Neurofilament Medium Chain

Introduction

Nefm — Neurofilament Medium Chain is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

Mermaid diagram (expand to render)

NEFM encodes the neurofilament medium chain, a critical intermediate filament protein expressed primarily in large-diameter myelinated [neurons](/entities/neurons). Neurofilaments are the major intermediate filaments in neurons and are essential for maintaining axonal caliber and conduction velocity. NEFM is crucial for axonal transport and is emerging as an important biomarker for neurodegenerative diseases.

Function

The NEFM gene encodes the 102.5 kDa neurofilament medium polypeptide, which assembles with [neurofilament light](/biomarkers/neurofilament-light-chain-nfl) chain (NEFL) and heavy chain (NEFH) to form the neuronal intermediate filament cytoskeleton. Neurofilaments are the most abundant cytoskeletal proteins in large myelinated axons and are essential for:

Axonal caliber maintenance: NEFM phosphorylation regulates axonal diameter
Fast axonal transport: Functions as tracks for cargo movement
Synaptic function: Supports synaptic vesicle localization
Neuronal connectivity: Essential for proper neural circuit formation

Brain Expression

NEFM is highly expressed in:

Motor neurons of the spinal cord
Large sensory neurons (dorsal root ganglia)
Brainstem nuclei
Hippocampal pyramidal neurons
Cerebral [cortex](/brain-regions/cortex) layer 5 pyramidal neurons
Cerebellar Purkinje cells

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

NEFM mutations are linked to ALS and ALS-like disorders. Neurofilament accumulation in motor neurons is a hallmark of ALS pathology, and elevated NEFM in cerebrospinal fluid and blood serves as a biomarker for disease progression [@uniprot].

Charcot-Marie-Tooth Disease

NEFM mutations cause forms of Charcot-Marie-Tooth disease (CMT), particularly the demyelinating subtype (CMT2), affecting peripheral nerve function [@ncbi].

Parkinson's Disease

Neurofilament markers are elevated in some PD patients, particularly those with atypical parkinsonism. NEFM can serve as a biomarker for disease progression [^3].

Key Publications

PMID: 11852(https://pubmed.ncbi.nlm.nih.gov/11852/) - Neurofilament structure and function

PMID: 8844771(https://pubmed.ncbi.nlm.nih.gov/8844771/) - NEFM mutations in ALS

PMID: 25944111(https://pubmed.ncbi.nlm.nih.gov/25944111/) - Neurofilament biomarkers in neurodegeneration

[NEFL Gene](/genes/nefl) - [Neurofilament Light](/entities/neurofilament-light) Chain
[NEFH Gene](/genes/nefh) - Neurofilament Heavy Chain
[Neurofilament Proteins](/proteins/neurofilament)
[ALS Disease Page](/diseases/als)

Background

The study of Nefm — Neurofilament Medium Chain has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

External Links

[PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
[Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
[Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data

References

Unknown, UniProt - Protein information (n.d.)

Unknown, NCBI Gene - Gene database (n.d.)

Pathway Diagram

The following diagram shows the key molecular relationships involving NEFM — Neurofilament Medium Chain discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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NEFM — Neurofilament Medium Chain

NEFM — Neurofilament Medium Chain

NEFM — Neurofilament Medium Chain

Introduction

NEFM — Neurofilament Medium Chain

NEFM — Neurofilament Medium Chain

Introduction

Overview

Function

Brain Expression

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

Charcot-Marie-Tooth Disease

Parkinson's Disease

Key Publications

Related Pages

See Also

Background

External Links

References

Pathway Diagram