Protein Name neurofilament heavy chain
Organism Homo sapiens
Gene ID 4744
Gene Symbol

NEFH

UniProt P12036 (NFH_HUMAN)
Relationships Total Number of functionally related compound(s) : 103
Total Number of Articles : 105
Description

neurofilament heavy chain

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, Oct 2008]

synonyms
  • neurofilament heavy polypeptide
  • 200 kDa neurofilament protein
  • NF-H
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Properties