FOXL2 Blocking Peptide

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]

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: protein binding; DNA binding; ubiquitin conjugating enzyme binding; sequence-specific DNA binding; caspase regulator activity; estrogen receptor binding; transcription factor activity

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

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