FOXL2 Antibody – Rabbit Polyclonal

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

By similarity. Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen

By similarity. Is a regulator of CYP19 expression

By similarity. Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element

By similarity. Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2. Ref.4 Ref.5 Ref.6 Ref.7

Subunit structure: Interacts with ESR1

By similarity. Interacts with SMAD3

By similarity. Interacts with DDX20. Interacts with UBE2I/UBC9. Ref.4 Ref.5

Subcellular location: Nucleus Ref.5.

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.

Induction: In granulosa-like cells, up-regulated at transcript and protein levels under oxidative stress and heat-shock conditions. Down-regulated by SIRT1. Ref.6

Post-translational modification: Sumoylated with SUMO1; sumoylation is required for transcriptional repression activity. Ref.5

Involvement in disease: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]: A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. 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.Note: The disease is caused by mutations affecting the gene represented in this entry. 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. Ref.1 Ref.2 Ref.9 Ref.10 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21Premature ovarian failure 3 (POF3) [MIM:608996]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.12

Sequence similarities: Contains 1 fork-head DNA-binding domain.