Quick Search
Products Polyclonal Anti-FOXL2
| Catalogue number: | PA1104 |
| Price: | $200.00 |
| Reactivities: | Human, Mouse, Rat |
| Applications: | Immunohistochemistry, Western Blot |
| Size: | 100ug/vial |
| Gene: | FOXL2 |
| Swiss prot: | P58012 |
| Form: | Lyophilized |
| Format: | Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. |
| Storage temp: | "At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time. Avoid repeated freezing and thawing. " |
| Scientific background: | 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. |
| 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. |
| Additional info: | A synthetic peptide corresponding to a sequence at the N-terminal of human FOXL2, identical to the related rat and mouse sequences. |
Get the Best Promotions
