NEFH

GENE INFORMATION

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Gene name

NEFH

Synonyms

Description

Neurofilament, heavy polypeptide (HGNC Symbol)

Entrez 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]

Chromosome

22

Cytoband

q12.2

Chromosome location (bp)

29876219 - 29887379

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100285 (version 75.37)

Entrez gene

4744

UniProt

P12036 (UniProt - Evidence at protein level)

neXtProt

NX_P12036

Antibodypedia

NEFH antibodies
 

PROTEIN VIEW

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NEFH-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NEFH-001 ENSP00000311997
ENST00000310624
P12036
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