Symbol
| FOXO1
| contributors: mct - updated : 17-08-2020
|
HGNC name
| forkhead box O1
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HGNC id
| 3819
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corresponding disease(s)
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ARMS
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Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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tumoral
| fusion
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| protein chimeric
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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
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| --over
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early in the decidualization process | constitutional
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| loss of function
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can improve hepatic metabolism during insulin resistance and the metabolic syndrome | constitutional
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silencing FOXO1 decreases the expression of RUNX2 and impairs bone formation | tumoral
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enhanced prostate cancer cell migration in a RUNX2-dependent manner | |
Susceptibility
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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 |
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SNP rs2721068 was significantly associated with type 2 diabetes |
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rs2721051 near FOXO1 strongly associated to keratoconus |
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Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | muscle | | |
partial inhibition of hepatic Foxo1 might be a good target to prevent the progression of a vicious cycle that causes metabolic disease |
| | | |
| 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 |
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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 |