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FLASH GENE
Symbol NEFM contributors: npt/mct - updated : 14-04-2016
HGNC name neurofilament, medium polypeptide 150kDa
HGNC id 7734
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • globular head
  • a central coiled-coil rod region
  • a C terminal globular tail O-glycosylated and synchronously regulated in axons of neurons and containing the repeated motif KSP(XKSPYK), 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 Nef3
    Homologene
    FAMILY
  • intermediate filament family, type IV
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • involved in the maintenance of neuronal caliber
  • involved in neurite outgrowth, early neuronal cell development, neuropeptide signaling/synthesis and neuronal receptor (Tondreau 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • medium chain constituent of neurofilament
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Parkinson disease
    Variant & Polymorphism other G336S variant increasing the risk of Parkinson disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS