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FOXL2 is a winged helix/forkhead transcription factor that is highly conserved in human, goat, mouse, and certain aquatic species. Given its cross-species conservation, it appears to play a critical role evolutionarily, likely in ovarian differentiation in mammals and in ovarian somatic cell differentiation and in further follicle development and/or maintenance. Immunohistochemical data shows that FOXL2 is a nuclear protein specifically expressed in eyelids and in fetal and adult ovarian follicular cells. It does not undergo any major posttranslational modifications.
FOXL2 is also found to be associated with blepharo-phimosis/ptosis/epicanthus inverses syndrome (BPES). There are two forms of BPES. Type I BPES shows eyelid abnormal-ities that are associated with ovarian failure. In type II BPES, only eyelid defects are found. Studies have shown that FOXL2 is expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles
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