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Forkhead box L2

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Forkhead box L2

Forkhead box L2
Identifiers
Symbols  ; BPES; BPES1; PFRK; PINTO; POF3
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Forkhead box protein L2 is a protein that in humans is encoded by the FOXL2 gene.[1][2]

Function

FOXL2 is a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function.[2]

Clinical significance

This protein is involved in sex determination. Female missing the FOXL2 gene appear male. FOXL2 knockout in mature mouse ovaries cause them to develop into testes, however oocytes are still formed.[3]

Mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3.[2]

See also

References

  1. ^ de Die-Smulders CE, Engelen JJ, Donk JM, Fryns JP (Dec 1991). "Further evidence for the location of the BPES gene at 3q2". J Med Genet 28 (10): 725.  
  2. ^ a b c "Entrez Gene: FOXL2 forkhead box L2". 
  3. ^ Uhlenhaut NH, Jakob S, Anlag K, Eisenberger T, Sekido R, Kress J, Treier AC, Klugmann C, Klasen C, Holter NI, Riethmacher D, Schütz G, Cooney AJ, Lovell-Badge R, Treier M (December 2009). "Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation". Cell 139 (6): 1130–42.  

Further reading

External links

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