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FLASH GENE
Symbol CSF3R contributors: mct - updated : 24-01-2017
HGNC name colony stimulating factor 3 receptor (granulocyte)
HGNC id 2439
ASSOCIATED DISORDERS
corresponding disease(s) SCNH
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
associated with ASXL1 and/or SETBP1 mutation in chronic neutrophilic leukemia (CNL)
Susceptibility
  • acquisition of a CSF3R mutation is an early event in leukemogenesis
  • lifelong altered G-CSF response by the G-CSF-R_785Lys may render individuals susceptible to development of high-risk myelodysplastic syndrome
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Csf3/Csf3r axis is fundamentally important for long-term muscle regeneration, functional maintenance and lifespan extension in mouse models of DMD with varying severities