Forkhead box L2

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Forkhead box L2
Identifiers
Symbols FOXL2 ; BPES; BPES1; PFRK; PINTO; POF3
External IDs OMIM605597 MGI1349428 HomoloGene74992 GeneCards: FOXL2 Gene
RNA expression pattern
PBB GE FOXL2 220102 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 668 26927
Ensembl ENSG00000183770 ENSMUSG00000050397
UniProt P58012 O88470
RefSeq (mRNA) NM_023067 NM_012020
RefSeq (protein) NP_075555 NP_036150
Location (UCSC) Chr 3:
138.66 – 138.67 Mb
Chr 9:
98.96 – 98.96 Mb
PubMed search [1] [2]

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

Function[edit]

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[edit]

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[edit]

References[edit]

  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. doi:10.1136/jmg.28.10.725. PMC 1017067. PMID 1941972. 
  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. doi:10.1016/j.cell.2009.11.021. PMID 20005806. Lay summaryNature News. 

Further reading[edit]

External links[edit]