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FLASH GENE
Symbol FKTN contributors: mct - updated : 20-01-2015
HGNC name fukutin
HGNC id 3622
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • an amino terminal signal sequence suggesting that is secreted protein
  • HOMOLOGY
    Homologene
    FAMILY
  • licD transferase family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    text
  • extracellular matrix
  • in the cis-Golgi compartment
  • co-localizes with POMGNT1 in the Golgi apparatus
  • basic FUNCTION
  • regulation of neuronal migration in the fetal cerebrum and cerebellum
  • involved in migration and assembly of neurons during cortical histogenesis,not of basement membrane formation
  • required for the maintenance of muscle integrity, cortical histogenesis and normal ocular development
  • may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan
  • might play a significant role in post-translational modification of synaptic proteins in neuronal cells
  • is involved in basement membrane formation via the glycosylation of alpha-dystroglycan (alpha-DG), and hypoglycosylation of alpha-DG provokes the muscular, CNS and eye lesions of FCMD
  • is a very low abundance protein, required for glycosylation of alpha-dystroglycan at the Golgi, though not substantially-glycosylated itself
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • forms a complex with POMGNT1 and may modulate its enzymatic activity
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • functional linkage with alpha-dystroglycan
  • interacting with POMGNT1
  • cell & other
    REGULATION
    Other regulated by transcription factor CREB in response to the signals generated by synaptic activity
    ASSOCIATED DISORDERS
    corresponding disease(s) FCMD , CMD1X , LGMD2M
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    FKTN folding amelioration directed at correcting the cellular localization may provide a therapeutic benefit to glycosylation-deficient muscular dystrophies
    ANIMAL & CELL MODELS