Ensembl ENSG00000186790 | Entrez 2301 | |
Aliases FOXE3, FKHL12, FREAC8, forkhead box E3 | ||
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.
Contents
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.
Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital aphakia, sclerocornea, microphthalmia, and optic disc 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.