Gene

NEFL

Species
Homo sapiens
Symbol
NEFL
Name
neurofilament light chain
Synonyms
  • 68 kDa neurofilament protein
  • CMT1F
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity. A structural constituent of cytoskeleton. Involved in axonal transport and neurofilament bundle assembly. Located in axon and neurofilament. Implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Biomarker of several diseases, including Lewy body dementia; autoimmune disease (multiple); demyelinating disease (multiple); neurodegenerative disease (multiple); and prion disease (multiple).
RGD Description
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45652
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
24.951M24.952M24.953M24.954M24.955M24.956M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions