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FLASH GENE
Symbol NEFH contributors: npt/mct - updated : 14-04-2016
HGNC name neurofilament, heavy polypeptide 200kDa
HGNC id 7737
Corresponding disease
CMT2CC Charcot-Marie-Tooth disease, axonal, type 2CC
Location 22q12.2      Physical location : 29.876.180 - 29.887.275
Synonym name
  • neurofilament triplet H protein
    • Synonym symbol(s) NF-H, NFH, KIAA0845, NFL-H
    DNA
    TYPE functioning gene
    STRUCTURE 11.10 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3721 - 1020 - 2013 23632043
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain   highly
     nerve   highly
    Reproductivemale systemprostate  highly
    Respiratorylung    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • globular head, a central coiled-coil rod region
  • a C terminal globular tail containing 43 repeats KSP (XKSPYK) with two common polymorphic variants L large or S small, and C-terminal domains do not normally regulate neurofilament (NF) transport rates as previously proposed, but instead increase the proteolytic resistance of NF, thereby stabilizing the stationary neurofilament cytoskeleton along axons
    • mono polymer polymer
    HOMOLOGY
    interspecies homolog to murine Nefh
    homolog to C.elegans C02F12.7
    Homologene
    FAMILY
  • intermediate filament family, type IV
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus
    basic FUNCTION
  • having an important function in mature axons
  • playing a major role in the development of large diameter axons
  • distal to proximal development of peripheral nerves requires the expression of neurofilament heavy
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heavy polypeptide constituent of neurofilament
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2CC
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    of the tail primarily involved in uncommon forms of amyotrophic lateral sclerosis
    constitutional   deletion    
    of neurofilament heavy reduced axonal diameters and neurofilament number in proximal nerve segments
    Susceptibility to amyotrophic lateral sclerosis
    Variant & Polymorphism SS genotype risk factor for sporadic amyotrophic lateral sclerosis
    Candidate gene
    Marker
  • detection of NEFH may be useful in determining which individuals require CT imaging to assess the severity of their brain injury
  • in ALS, increased NEFH concentration in plasma, serum and CSF appears to be associated with faster disease progression
    • Therapy target
    ANIMAL & CELL MODELS
  • mice lacking the Nefh gene (Rao,98); Nefh knockout mice (Elder,98)