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NEFL

Gene

neurofilament light chain

HGNCHGNC:7739EnsemblENSG00000277586NCBI Gene4747
Locus: gene with protein productLocation: 8p21.2

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asNFL · CMT1F · CMT2E · NF68 · PPP1R110
View full nomenclature history (9)
Alias symbolsNFL, CMT1F, CMT2E, NF68, PPP1R110
Previous namesneurofilament, light polypeptide 68kDa, neurofilament, light polypeptide, neurofilament light
Alias namesprotein phosphatase 1, regulatory subunit 110

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Charcot-Marie-Tooth Disease
Genetic Diseases, Inborn

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Intermediate filaments Type IVProtein phosphatase 1 regulatory subunitsMicroRNA protein coding host genes

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.