forkhead box protein L2; forkhead transcription factor FOXL2; pituitary forkhead factor mouse homolog (FOXL2)
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Function
probable transcriptional regulator
Structure
contains 1 fork-head DNA-binding domain
Compartment
Expression
- expressed in developing eyelid
- transcribed very early in somatic cells of the developing gonad (before sex determination)
- expression persists in the follicular cells of the adult ovary
Pathology
- defects in FOXL2 are a cause of blepharophimosis syndrome
- defects in FOXL2 are a cause of premature ovarian failure 3
- 402C->G point mutation in the FOXL2 gene may be associated with ovarian cancer (adult granulosa-cell tumors)[5]
Genetics
- mutational hotspot in region coding for the poly-Ala domain, since 30% of all mutations in the ORF lead to poly-Ala expansions, resulting mainly in blepharophimosis syndrome (BPES) type 2
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P58012.html
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=668
- ↑ Human FOXL2 mutation database http://medgen.ugent.be/LOVD/index.php?select_db=FOXL2
- ↑ NAME=GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXL2
- ↑ 5.0 5.1 Shah SP et al Mutation of FOXL2 in granulosa-cell tumors of the ovary. N Engl J Med 2009 Jun 25; 360:2719. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19516027
Shendure J and Stewart CJ. Cancer genomes on a shoestring budget. N Engl J Med 2009 Jun 25; 360:2781. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19516026