NEFL
Sign in to saveAlso known as CMT1F, CMT2E, NF-L, NF68, NFL, PPP1R110, neurofilament, light polypeptide, neurofilament light
protein-coding gene in the species Homo sapiens
Gene data
NEFL- Name
- neurofilament light chain
- Type
- protein-coding
- Position
- 24,950,955–24,956,721 (−)
- Aliases
- CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110
- Ensembl
- ENSG00000277586
- RefSeq RNA
- NM_006158.5
- RefSeq protein
- NP_006149.2
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
neurofilament light chain
- Symbol
- NEFL
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:24,950,955-24,956,721
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 4487
- exact match
- identifiers.org/ncbigene/4747
- genomic start
- 24950955
- cytogenetic location
- 8p21.2
- genomic end
- 24956721
Sources (4)
via Wikidata · CC0