7vov
From Proteopedia
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== Disease == | == Disease == | ||
- | [https://www.uniprot.org/uniprot/FOXL2_HUMAN FOXL2_HUMAN] Blepharophimosis-ptosis-epicanthus inversus syndrome | + | [https://www.uniprot.org/uniprot/FOXL2_HUMAN FOXL2_HUMAN] Blepharophimosis-ptosis-epicanthus inversus syndrome type 1;Blepharophimosis-ptosis-epicanthus inversus syndrome type 2;Blepharophimosis-ptosis-epicanthus inversus syndrome plus;Malignant granulosa cell tumor of the ovary. The disease is caused by variants 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. The disease is caused by variants affecting the gene represented in this entry. |
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/FOXL2_HUMAN FOXL2_HUMAN] 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>PMID:16153597</ref> <ref>PMID:19010791</ref> <ref>PMID:19429596</ref> <ref>PMID:19744555</ref> | [https://www.uniprot.org/uniprot/FOXL2_HUMAN FOXL2_HUMAN] 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>PMID:16153597</ref> <ref>PMID:19010791</ref> <ref>PMID:19429596</ref> <ref>PMID:19744555</ref> |
Current revision
The crystal structure of human forkhead box protein in complex with DNA 2
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