FOXE3

Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a is_associated_with::protein that in humans is encoded by the FOXE3 is_associated_with::gene located on the short arm of chromosome 1.

Function
FOXE3 is a forkhead-box is_associated_with::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 is_associated_with::anterior segment mesenchymal dysgenesis.

Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital is_associated_with::aphakia, is_associated_with::sclerocornea, is_associated_with::microphthalmia, and optic disc is_associated_with::coloboma. 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), and Peter's anomaly.