Anti-FOXL2

0.5mg/ml if reconstituted with 0.2ml sterile DI water. The forkhead transcription factor gene, FOXL2 located in blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) critical region on chromosome 3q23. Consistent with an involvement in BPES, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles, in adult humans, it appears predominantly in the ovary. FOXL2 haploinsufficiency may cause BPES types I and II by the effect of a null allele and a hypomorphic allele, respectively. Furthermore, in a fraction of the BPES patients the genetic defect does not reside within the coding region of the FOXL2 gene and may be caused by a position effect. FOXL2 mutations can also cause gonadal dysgenesis or premature ovarian failure(POF) in women, as well as eyelid/forehead dysmorphology in both sexes. Protein function: Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans- differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9. Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen. Is a regulator of CYP19 expression. Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element. Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2. [The UniProt Consortium]