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FLASH GENE
Symbol FOXO1 contributors: mct - updated : 17-08-2020
HGNC name forkhead box O1
HGNC id 3819
ASSOCIATED DISORDERS
corresponding disease(s) ARMS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion     protein chimeric
fused to PAX3 in alveolar rhabdomyosarcoma with translocation t(2;13)(q35;q14) and to PAX7 with translocation t(1;13)(p36;q14) (see BARMS1, BARMS2, BARMS13)
constitutional     --over  
early in the decidualization process
constitutional       loss of function
can improve hepatic metabolism during insulin resistance and the metabolic syndrome
constitutional        
silencing FOXO1 decreases the expression of RUNX2 and impairs bone formation
tumoral        
enhanced prostate cancer cell migration in a RUNX2-dependent manner
Susceptibility
  • to type 2 diabetes (minor contributor)
  • to keratoconus
  • Variant & Polymorphism SNP
  • haplotype 3 'TCA' have higher HbA1c levels and a 1.14-fold higher all-cause mortality risk, attributable to death from diabetes, for which a 2.43-fold increase was observed
  • SNP rs2721068 was significantly associated with type 2 diabetes
  • rs2721051 near FOXO1 strongly associated to keratoconus
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancermuscle 
    partial inhibition of hepatic Foxo1 might be a good target to prevent the progression of a vicious cycle that causes metabolic disease
    ANIMAL & CELL MODELS
  • FoxO1-deficient embryos manifest progressive apoptotic cell death
  • mice lacking FOXO1 in steroidogenic factor 1 (NR5A1) neurons of the ventromedial hypothalamus are lean due to increased energy expenditure
  • mice with Treg-cell-specific deletion of Foxo1 develop a fatal inflammatory disorder similar in severity to that seen in Foxp3-deficient mice, but without the loss of Treg cells