FOXL2 Antibody – Rabbit Polyclonal

FOXL2: 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. Defects in FOXL2 are a cause of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES); 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. Defects in FOXL2 are a cause of premature ovarian failure type 3 (POF3). 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.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 3q23

Cellular Component: nucleus

Molecular Function: caspase regulator activity; DNA binding; estrogen receptor binding; protein binding; transcription factor activity; ubiquitin conjugating enzyme binding

Biological Process: cell differentiation; DNA fragmentation during apoptosis; embryonic eye morphogenesis; extraocular skeletal muscle development; female somatic sex determination; granulosa cell differentiation; menstruation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; oocyte growth; ovarian follicle development; positive regulation of apoptosis; positive regulation of caspase activity; positive regulation of follicle-stimulating hormone secretion; positive regulation of luteinizing hormone secretion; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; single fertilization; transcription from RNA polymerase II promoter; uterus development

Disease: Blepharophimosis, Ptosis, And Epicanthus Inversus; Premature Ovarian Failure 3