FOXE3
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.[1]
Function
FOXE3 is a forkhead-box transcription factor which is involved in the proper formation of the ocular lens and is post-natally expressed in the lens epithelium.
Clinical significance
Mutations in the FOXE3 gene are associated with anterior segment mesenchymal dysgenesis.[2]
Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital aphakia,[3][4] sclerocornea, microphthalmia, and optic disc coloboma.[5] There have also been reports of heterozygous mutations causing less severe ocular diseases such as anterior segment dysgenesis (sometimes referred to as anterior segment mesenchymal dysgenesis),[2] and Peter's anomaly.[6]
See also
References
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