Forkhead box protein L2 (FOXL2)

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\nUniProt Number:\nP58012\n\nGene ID:\nFOXL2\n\nApplications:\nSuitable for use in Western Blot and Immunohistochemistry (Paraffin).\n\nRecommended Dilution:\nOptimal dilutions to be determined by the researcher.\n\nStorage and Handling:\nStore at -20?C for one year. After reconstitution, store at 4?C for one month. Can also be aliquoted and stored frozen at -20?C for long term.\nAvoid repeated freezing and thawing. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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SPECIFICATIONS

Catalog Number

144547

Size

100ug

Applications

IHC, WB

Hosts

Rabbit

Reactivities

Hum, Mouse, Rat

Form

Supplied as a lyophilized powder. Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500ug/ml.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

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.\n2. 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.\n3. 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.

Additional Info

Recognizes human, mouse and rat FOXL2. No crossreactivity with other proteins.