Also known as NFH, CMT2CC, neurofilament, heavy polypeptide, neurofilament heavy, neurofilament heavy chain
Neurofilament, heavy polypeptide (NEFH) is a protein that in humans is encoded by the NEFH gene.
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].
via MyGene.info
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Neurofilament, heavy polypeptide (NEFH) is a protein that in humans is encoded by the NEFH gene.
It is the gene for a heavy protein subunit that is combined with medium and light subunits to make neurofilaments, which form the framework for nerve cells.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).