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FLASH GENE
Symbol NEFL contributors: mct/pgu - updated : 23-04-2012
HGNC name neurofilament, light polypeptide
HGNC id 7739
Corresponding disease
CMT1F Charcot-Marie-Tooth disease type 1F
CMT2E Charcot-Marie-Tooth disease, axonal, type 2 E
Location 8p21.2      Physical location : 24.808.470 - 24.814.131
Synonym name
  • neurofilament, light polypeptide 68kDa
  • neurofilament triplet L protein
  • light molecular weight neurofilament protein
  • neurofilament subunit NF-L
    • Synonym symbol(s) NF-L, NF68, NFL
    DNA
    TYPE functioning gene
    STRUCTURE 5.66 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map pter - NEFL - GTF2E2 - D8S137 - D8S131 - D8S339 - [D8S540 /PPP2CB ] - D8S124 - D8S278 - NRG1 - D8S259 - [D8S513 /D8S283 ] - D8S535 - D8S505 - D8S87 - ADRB3 ADRB3 - FGFR1 - D8S255 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3602 61.5 543 - 2008 18023247
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    Urinarykidney   highly
    Visualeye   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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