NEFL neurofilament light chain
Gene ID: 4747, updated on 1-Oct-2024Gene type: protein coding
Also known as: NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110
- See all available tests in GTR for this gene
- Go to complete Gene record for NEFL
- Go to Variation Viewer for NEFL variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease type 1F | See labs |
| Charcot-Marie-Tooth disease type 2E | See labs |
| Charcot-Marie-Tooth disease, dominant intermediate G | See labs |
| Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2018-09-17) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 8p21.2
- Sequence:
- Chromosome: 8; NC_000008.11 (24950955..24956612, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NEFL variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Human Intermediate Filament Database NEFL
- IPN Mutations, NEFL
- MedGenRelated information in MedGen
- NEFL homepage - Leiden Muscular Dystrophy pages
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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