FOXL2 Products

Description

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.

Bioinformatics

Entrez	26927 Mouse 668 Human
Uniprot	NP_075555 Human NP_075555.1 Human P58012 Human
Product By Gene ID	668
Alternate Names	BPES BPES1PINTO forkhead box L2 forkhead box protein L2 forkhead transcription factor FOXL2 PFRK POF3