NEFH neurofilament heavy chain
Gene ID: 4744, updated on 27-Nov-2024Gene type: protein coding
Also known as: NFH; CMT2CC
- See all available tests in GTR for this gene
- Go to complete Gene record for NEFH
- Go to Variation Viewer for NEFH variants
Summary
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
Associated conditions
Genomic context
- Location:
- 22q12.2
- Sequence:
- Chromosome: 22; NC_000022.11 (29480218..29491390)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NEFH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/NEFH genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Human Intermediate Filament Database NEFH
- MedGenRelated information in MedGen
- NEFH database
- 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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