FOXL2 (Forkhead Box L2, Blepharophimosis, BPES1, Epicanthus Inversus and Ptosis 1, PFRK, PINTO)

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. \n\nApplications:\nSuitable for use in Western Blot. Other applications not tested.\n\nRecommended Dilutions:\nWestern Blot: 1ug/ml \nOptimal dilutions to be determined by the researcher.\n\nStorage and Stability:\nLyophilized powder may be stored at -20 degrees C. Stable for 12 months at -20 degrees C. Reconstitute with sterile dH2O. Aliquot to avoid repeated freezing and thawing. Store at -20 degrees C. Reconstituted product is stable for 12 months at -20 degrees C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

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SPECIFICATIONS

Catalog Number

F9048-01A

Size

100ug

Applications

WB

Hosts

Rabbit

Reactivities

Hum

Form

Supplied as a lyophilized powder from PBS, 5% BSA, 0.05% thimerosal, 0.05% sodium azide. Reconstitute with 200ul sterile ddH2O.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

References

1. Crisponi, L., Deiana, M., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S., Ristaldi, M. S., Marzella, R., et al. 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., et al. 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. Hum. Molec. Genet. 13: 1171-1181, 2004.

Additional Info

Recognizes human FOXL2.