Neurofilament Protein, Heavy Polypeptide

Alternative Names

  • NEFH
  • NFH
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OMIM Number

162230

NCBI Gene ID

4744

Uniprot ID

P12036

Length

11,173 bases

No. of Exons

4

No. of isoforms

2

Protein Name

Neurofilament heavy polypeptide

Molecular Mass

112479 Da

Amino Acid Count

1026

Genomic Location

chr22:29,480,218-29,491,390

Gene Map Locus
22q12.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021076.4:c.1054C>TLebanonNC_000022.11:g.29483545C>TLikely BenignLikely PathogenicAmyotrophic Lateral Sclerosis 1NG_008404.1:g.8354C>T; NM_021076.4:c.1054C>T; NP_066554.2:p.Arg352Cys1499552551013206
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