background:
This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009].
Function:
FOXE3 is a forkhead transcription factor. These factors are distinguished by a characteristic 100-amino acid motif that was originally identified in Drosophila; a common function of forkhead transcription factors is their involvement in early developmental decisions of cell fates during embryogenesis. Defects in FOXE3 are a cause of several ocular disorders. FOXE3 may be essential for the early normal developmental of the lens. FOXE3 had been shown to play a crucial role in vertebrate lens formation and is one of the earliest integrators of several signaling pathways that cooperate to form a lens.
Subcellular Location:
Nuclear.
DISEASE:
Defects in FOXE3 are a cause of anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]; also known as anterior segment ocular dysgenesis (ASOD). ASMD consists of a range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Mature anterior segment anomalies are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.
Defects in FOXE3 are a cause of congenital primary aphakia (CPA) [MIM:610256]. Aphakia is a rare congenital eye disorder in which the lens is missing. It has been histologically subdivided into primary and secondary forms, in accordance with the severity of defects of the ocular tissues, whose development requires the initial presence of a lens. CPA results from an early developmental arrest, around the 4th-5th week of gestation in humans, that prevents the formation of any lens structure and leads to severe secondary ocular defects, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less-severe ocular defects.
Similarity:
Contains 1 fork-head DNA-binding domain.
Database links:
UniProtKB/Swiss-Prot: Q13461.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
