NEFH

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.

Gene data

NEFH

Name: neurofilament heavy chain
Type: protein-coding
Aliases: CMT2CC, NFH

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

Gene · Ensembl

neurofilament heavy chain

Symbol: NEFH
Biotype: Protein coding
Organism: Homo sapiens
Location: 22:29,480,209-29,491,390
Strand: Forward (+)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

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HomoloGene ID: 40755
exact match: identifiers.org/ncbigene/4744
genomic end: 29887379
genomic start: 29480218
cytogenetic location: 22q12.2

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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.