NEFL: Neurofilament Light Chain Gene
A key gene encoding the light subunit of neurofilaments, critical for neuronal cytoskeleton integrity and implicated in Charcot-Marie-Tooth disease and other neuropathies.
Gene Information Card
| Symbol | NEFL |
|---|---|
| Full Name | Neurofilament Light Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 4747 ncbi.nlm.nih.gov/gene/4747 |
| Ensembl ID | ENSG00000104725 |
| UniProt ID | P07196 |
| OMIM ID | 162280 |
| HGNC ID | 7739 |
| Aliases | NF-L, NFL, CMT1F, CMT2E, PPP1R110 |
Description
The NEFL gene encodes the neurofilament light polypeptide (NF-L), a 68 kDa protein that is the smallest subunit of neurofilaments. Neurofilaments are type IV intermediate filaments that form the structural scaffold of the neuronal cytoskeleton, providing mechanical stability and regulating axon caliber. NF-L is essential for neurofilament assembly and transport. Mutations in NEFL cause Charcot-Marie-Tooth disease types 1F and 2E, and are also associated with other peripheral neuropathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 1F (CMT1F) | Dominant mutations disrupt neurofilament assembly, leading to demyelinating neuropathy with reduced nerve conduction velocities. | ClinVar, OMIM |
| Charcot-Marie-Tooth disease type 2E (CMT2E) | Dominant mutations cause axonal degeneration without significant demyelination, resulting in axonal neuropathy. | ClinVar, OMIM |
| Amyotrophic lateral sclerosis (ALS) | Rare variants in NEFL may contribute to motor neuron degeneration, though evidence is limited. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 78.5 | High |
| Spinal cord | 65.2 | High |
| Peripheral nerve | 55.0 | High |
| Heart | 1.2 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.3 | High expression; used in neuronal differentiation studies |
| U-87 MG (glioblastoma) | 12.1 | Moderate expression |
| HEK293 (embryonic kidney) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.262C>T (p.Pro88Ser) | Missense | Unknown | Dominant negative; associated with CMT2E |
| c.698G>A (p.Gly233Asp) | Missense | Unknown | Dominant negative; associated with CMT1F |
| c.1015C>T (p.Arg339Trp) | Missense | Unknown | Dominant negative; associated with CMT2E |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; complete loss of NEFL is likely lethal in humans.
Gain of Function (GOF)
Not established; most mutations act via dominant-negative mechanisms.
Dominant Negative (DN)
Primary mechanism: mutant NF-L protein interferes with wild-type neurofilament assembly, causing aggregation and impaired axonal transport.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • cytoskeletal protein binding (GO:0008092) | • neuron projection (GO:0043005) |
| • axon (GO:0030424) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Neurofilament cytoskeleton (KEGG: hsa04540)
Protein Summary
Neurofilament light chain (NF-L) is a 543-amino acid protein with a central alpha-helical rod domain flanked by non-helical head and tail domains. It polymerizes with neurofilament medium (NEFM) and heavy (NEFH) chains to form 10 nm neurofilaments. NF-L is the most abundant neurofilament subunit and is essential for filament assembly. Post-translational modifications include phosphorylation, which regulates filament dynamics and axonal transport. Elevated NF-L levels in cerebrospinal fluid and blood are biomarkers for neuronal damage in neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEFL Knockout HEK293 Cell Line | EDJ-KQ13658 | Human | 4747 | Details Get a Quote |
| NEFL Knockout HCT 116 Cell Line | EDJ-KQ18057 | Human | 4747 | Details Get a Quote |
| NEFL Knockout A-549 Cell Line | EDJ-KQ44604 | Human | 4747 | Details Get a Quote |
| NEFL Knockout HeLa Cell Line | EDJ-KQ53983 | Human | 4747 | Details Get a Quote |
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