| Symbol
| FOXL2
| contributors: mct/shn - updated : 12-10-2022
|
| HGNC name
| forkhead box L2
|
| HGNC id
| 1092
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
| germinal mutation
|
|
|
| |
mutation in premature ovarian failure | | tumoral
| somatic mutation
|
|
|
|
leading to a p.C134W change, was found in the majority of adult-type ovarian granulosa cell tumors (GCTs)  | | constitutional
|
|
|
| gain of function
| |
promotes cell accumulation in G1 phase and protects cells from oxidative damage | | constitutional
|
|
| --other
|
| |
aberrantly increased FOXL2 expressions in the female reproductive tract can disrupt ovarian and uterine functions | | constitutional
|
|
|
| loss of function
| |
dysregulated FOXL2 function may alter cell cycle progression and apoptosis | | constitutional
|
|
| --over
|
| |
in endometriosis, suggesting an involvement of this transcriptional regulator, probably associated with activin A expression and related to the pathogenesis of endometriosis | |
| Susceptibility
|
to isolated premature ovarian failure (POF) |
| Variant & Polymorphism
other
| variant detected in a POF case without BPES |
| 
|
| Candidate gene
| female sex determining |
Marker
Therapy target
|
| | |
|
| mice lacking Foxl2 display gonadal dysgenesis, are small and show distinctive craniofacial morphology with upper eyelids absent ( | |
Inducible deletion of Foxl2 in adult ovarian mouse follicles leads to immediate upregulation of testis-specific genes including the critical SRY target gene Sox9 ( |
|
Foxl2-null mice exhibit developmental defects in granulosa cells |