The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
Blepharophimosis epicanthus inversus and ptosis
Blepharophimosis epicanthus inversus and ptosis 1
Epicanthus inversus and ptosis 1
Forkhead box L2
Forkhead box protein L2
Forkhead transcription factor FOXL2
PITUITARY FORKHEAD FACTOR
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 throught 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.
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.
Involvement in 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. Defects in FOXL2 are a cause of premature ovarian failure type 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.
Contains 1 fork-head DNA-binding domain.
Sumoylated by SUMO1; sumoylation is required for transcriptional repression activity.