Description

The forkhead transcription factor gene, FOXL2 located in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) critical region on chromosome 3q23. Consistent with an involvement in BPES, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 haploinsufficiency may cause BPES types I and II by the effect of a null allele and a hypomorphic allele, respectively. Furthermore, in a fraction of the BPES patients the genetic defect does not reside within the coding region of the FOXL2 gene and may be caused by a position effect. FOXL2 mutations can also cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes.

Catalog Number

IW-PA1104

Quantity

9 ml

Host

Rabbit

Clone

Polyclonal

Isotype

IgG

Immunogen

A synthetic peptide corresponding to a sequence at the N-terminal of human FOXL2, identical to the related rat and mouse sequence.

Purity

Immunogen affinity purified

Conjugate

Unconjugated

Species Reactivity

Human, mouse, rat. Not tested in other species.

Positive Control

Ovary, human ovary cancer

Cellular Localization

Cytoplasmic

Form

Ready to use solution. No further dilution needed. Serum blocking step should be omitted.

Storage

Store at 2-8 °C. Do not freeze.

Applications

IHC-P: Heat induced epitope retrieval is required on formalin fixed paraffin sections.

IHC-Fr: Not tested.

ICC: Suitable.

Limitations

This product is intended for Research Use Only. Interpretation of the test results is solely the responsibility of the user.

Precautions

Users should follow general laboratory precautions when handling this product. Wear personal protective equipment to avoid contact with skin and eyes.

References

1.    Crisponi, L.; Deiana, M.; Loi, A.; Chiappe, F.; Uda, M.; Amati, P.; Bisceglia, L.; Zelante, L.; Nagaraja, R.; Porcu, S.; Ristaldi, M. S.; Marzella, R.; and 10 others : The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nature Genet. 27: 159-166, 2001.

2.    De Baere, E.; Dixon, M. J.; Small, K. W.; Jabs, E. W.; Leroy, B. P.; Devriendt, K.; Gillerot, Y.; Mortier, G.; Meire, F.; Van Maldergem, L.; Courtens, W.; Hjalgrim, H.; and 15 others : Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum. Molec. Genet. 10: 1591-1600, 2001.

3.    Uda, M.; Ottolenghi, C.; Crisponi, L.; Garcia, J. E.; Deiana, M.; Kimber, W.; Forabosco, A.; Cao, A.; Schlessinger, D.; Pilia, G. : Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. Hum. Molec. Genet. 13: 1171-1181, 2004.

Images

Immunohistochemical analysis of formalin fixed paraffin-embedded rat ovary tissue section using FoxL2 antibody showing cytoplasmic staining.

Immunohistochemical analysis of formalin fixed paraffin-embedded human ovarian cancer using FoxL2 antibody showing cytoplasmic staining.