Entrez gene ID | | 4744 |
Official gene symbol | | NEFH |
Full name | | neurofilament, heavy polypeptide |
Aliases | | ,NFH, |
Gene 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] |
Location | | Chromosome: 22 Locus: 22q12.2 |
Gene position | | 29876181 - 29887279 Map Viewer |
Gene orientation | | plus |
Gene size | | 11099 bp |
Gene sequence |
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OMIM ID | | 162230 |
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