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Protein Page:
FOXE3 (human)

Overview
FOXE3 Defects in FOXE3 are a cause of anterior segment mesenchymal dysgenesis (ASMD); 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). 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. Note: This description may include information from UniProtKB.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 1p32
Cellular Component: nucleus; transcription factor complex
Molecular Function: DNA binding; sequence-specific DNA binding; transcription factor activity
Biological Process: lens development in camera-type eye; negative regulation of apoptosis; transcription from RNA polymerase II promoter
Disease: Anterior Segment Mesenchymal Dysgenesis; Aphakia, Congenital Primary
Reference #:  Q13461 (UniProtKB)
Alt. Names/Synonyms: FKHL12; forkhead box E3; Forkhead box protein E3; forkhead, drosophila, homolog-like 12; Forkhead-related protein FKHL12; Forkhead-related transcription factor 8; FOXE3; FREAC-8; FREAC8
Gene Symbols: FOXE3
Molecular weight: 33,234 Da
Basal Isoelectric point: 9.72  Predict pI for various phosphorylation states
Select Structure to View Below

FOXE3

Protein Structure Not Found.


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