FOXE3
Encyclopedia
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.
transcription factor
which is involved in the proper formation of the ocular lens and is post-natally expressed in the lens epithelium.
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.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the FOXE3 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
located on the short arm of chromosome 1.
Function
FOXE3 is a forkhead-boxFOX proteins
FOX proteins are a family of transcription factors that play important roles in regulating the expression of genes involved in cell growth, proliferation, differentiation, and longevity...
transcription factor
Transcription factor
In molecular biology and genetics, a transcription factor is a protein that binds to specific DNA sequences, thereby controlling the flow of genetic information from DNA to mRNA...
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
Aphakia
Aphakia is the absence of the lens of the eye, due to surgical removal, a perforating wound or ulcer, or congenital anomaly. It causes a loss of accommodation, hyperopia, and a deep anterior chamber. Complications include detachment of the vitreous or retina, and glaucoma.Aphakic people are...
, sclerocornea
Sclerocornea
Sclerocornea is a congenital anomaly of the eye in which the cornea blends with sclera, having no clear-cut boundary. The extent of the resulting opacity varies from peripheral to total . The severe form is thought to be inherited in an autosomal recessive manner, but there may be another, milder...
, microphthalmia
Microphthalmia
Microphthalmia also referred to as microphthalmos, nanophthalmia or nanophthalmos, is a developmental disorder of the eye that literally means small eye...
, and optic disc coloboma
Coloboma
A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc...
. 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.