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Description for Protein NEFH

neurofilament, heavy polypeptide
6 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04574
    KEGG - Pathway(s):
    hsa05014
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Neurofilament heavy polypeptide; NFH; Neurofilament triplet H protein; 200 kDa neurofilament protein
    Approved Symbol:
    NEFH
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 36
    Human (de-) phosphorylation sites: 36; No platelet phosphorylation sites

    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available


    Associated Genetic Diseases:

  • Amyotrophic lateral sclerosis, susceptibility to(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 01204 Entrez Gene ID: 4744 OMIM ID: 162230 Swissprot Accession: P12036