Gene Symbol | NEFH |
Entrez Gene ID | 4744 |
Full Name | neurofilament heavy |
Synonyms | CMT2CC,NFH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3); Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) |