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.

Long Name

Forkhead Box L2

Alternate Names

BPES, BPES1, PFRK, PINTO, POF3

Gene Symbol

FOXL2

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Product Specific Notices for FOXL2 Antibody (FOXL2/7989R) [Janelia Fluor® 635]

Sold under license from the Howard Hughes Medical Institute, Janelia Research Campus.

This product is for research use only and is not approved for use in humans or in clinical diagnosis. Primary Antibodies are guaranteed for 1 year from date of receipt.

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FOXL2 Antibody (FOXL2/7989R) [Janelia Fluor® 635]

Novus Biologicals, part of Bio-Techne | Catalog # NBP3-20964JF635

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Product Summary for FOXL2 Antibody (FOXL2/7989R) [Janelia Fluor® 635]

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Applications for FOXL2 Antibody (FOXL2/7989R) [Janelia Fluor® 635]

Immunohistochemistry-Paraffin

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Background: FOXL2