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

There are 2 forms of the blepharophimosis/ptosis/epicanthus inversus syndrome. In one form, called type I, eyelid abnormalities are associated with ovarian failure. In the second type, called type II, only the eyelid defects are found. Both types map to 3q23. Crisponi et al. (2001) refined the physical mapping of the BPES critical region and positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, in which they found mutations to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 was selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appeared predominantly in the ovary. \n\nApplications: \nSuitable for use in Western Blot. Other applications not tested.\n\nRecommended Dilution:\nWestern Blot: 1-2ug/ml. Detects a band of ~45-50kD (predicted molecular weight: 43kD). \nOptimal dilutions to be determined by the researcher.\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and add glycerol (40-50%). Freeze at -20 degrees C. Aliquots are stable for at least 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

Size

100ug

Applications

WB

Hosts

Goat

Reactivities

Hum, Mouse, Goat

Form

Supplied as a liquid in TBS, pH 7.3, 0.5% BSA, 0.02% sodium azide.

P Type

Pab

Purity

Purified from goat serum by ammonium sulfate precipitation followed by immunoaffinity chromatography.

Isotype

IgG

References

Crisponi L et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 27 :159-66 (2001). PubMed: 11175783.

Additional Info

Recognizes human FOXL2. Expected to crossreact with Mouse and Goat due to sequence homology.