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FLASH GENE
Symbol NEFL contributors: mct/pgu - updated : 23-04-2012
HGNC name neurofilament, light polypeptide
HGNC id 7739
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a globular head domain important for the formation of filamentous network
  • a central coiled coil rod region
  • a C terminal globular tail domain
    • mono polymer polymer
    HOMOLOGY
    Homologene
    FAMILY
  • intermediate filament family, type IV
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • neurofilament assembly and regulation of expression of other neurofilaments
  • plays a pivotal function in the assembly and maintenance of axonal cytoskeleton. playing a a role in regulating neuronal development, specifically neurite outgrowth
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • light polypeptide constituent of neurofilament
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TSC1
  • direct target of the inhibitor of histone acetyltransferase ANP32P
  • interaction with TARDBP (stabilizes NEFL mRNA through a direct interaction with the 3'UTr)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2E , CMT1F
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • hNF-LP22S;tTa transgenic (tg) mice recapitulated key features of CMT2E disease, including aberrant hindlimb posture, motor deficits, hypertrophy of muscle fibres and loss of muscle innervation without neuronal loss, and normal distribution of NF proteins along the sciatic nerve of hNF-LP22S; tTa mice was restored upon treatment with doxycycline
  • hNF-LE397K mice display progressive muscle atrophy in hind limb muscles without denervation