This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016],disease:Defects in FOXL2 are a cause of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100], also known as blepharophimosis syndrome. It is an autosomal dominant disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold running inward and upward from the lower lid. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects. There is a mutational hotspot in the region coding for the poly-Ala domain, since 30% of all mutations in the ORF lead to poly-Ala expansions, resulting mainly in BPES type II.,disease:Defects in FOXL2 are a cause of premature ovarian failure 3 (POF3) [MIM:608996]. Premature ovarian failure (POF) is a defect of ovarian development and is characterized by hypoestrogenism, primary or secondary amenorrhea, with elevated levels of serum gonadotropins, or by early menopause. POF is defined as the cessation of ovarian function under the age of 40 years.,function:Probable transcriptional regulator.,similarity:Contains 1 fork-head DNA-binding domain.,tissue specificity:In addition to its expression in the developing eyelid, it is transcribed very early in somatic cells of the developing gonad (before sex determination) and its expression persists in the follicular cells of the adult ovary.,
