FOXE3

FOXE3 is a gene that encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver.

Function

The FOXE3 gene is involved in ocular development. Mutations in this gene have been associated with various ocular disorders, including congenital primary aphakia, Peters' anomaly, and sclerocornea. In mouse, a similar protein has been shown to regulate the expression of the crystallin genes, which are necessary for lens development.

Clinical significance

Mutations in the FOXE3 gene can lead to a variety of eye disorders. These include anophthalmia (absence of one or both eyes), microphthalmia (abnormally small eyes), cataracts, and corneal dystrophy. The gene is also associated with Peters' anomaly, a rare congenital disorder that affects the anterior chamber of the eye.

See also

• Forkhead box protein E3
• FOXE1
• FOXE2

External links

• GeneCards - FOXE3

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