Forkhead box protein E1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''FOXE1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Location
The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22
FOXE1
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Function
This intronless gene belongs to the forkhead family of transcription factors
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The func ...
, which is characterized by a distinct forkhead domain. This gene functions as a thyroid
The thyroid, or thyroid gland, is an endocrine gland in vertebrates. In humans it is in the neck and consists of two connected lobes. The lower two thirds of the lobes are connected by a thin band of tissue called the thyroid isthmus. The thy ...
transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The fu ...
which likely plays a crucial role in thyroid morphogenesis
Morphogenesis (from the Greek ''morphĂȘ'' shape and ''genesis'' creation, literally "the generation of form") is the biological process that causes a cell, tissue or organism to develop its shape. It is one of three fundamental aspects of devel ...
.
Clinical significance
Mutations in this gene cause Bamforth-Lazarus syndrome and are associated with congenital hypothyroidism
Hypothyroidism (also called ''underactive thyroid'', ''low thyroid'' or ''hypothyreosis'') is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone. It can cause a number of symptoms, such as po ...
and cleft palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The te ...
with thyroid dysgenesis
Thyroid dysgenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped. It should not be confused with iodine deficiency, or with other forms of congenital hypothyroidism, such as thyroid dys ...
. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma
Epithelioma is an abnormal growth of the epithelium, which is the layer of tissue that covers the surfaces of organs and other structures of the body.
Classification
Epitheliomas can be benign growths or malignant carcinomas. They are classifi ...
and hereditary sensory neuropathy
Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the peripheral nerves, meaning nerves beyond the brain and spinal cord. Damage to peripheral nerves may impair sensation, movement, gland, or or ...
type I.
The region surrounding the FOXE1 gene has shown association in the pathogenesis of cleft lip and palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The ...
with genome-wide levels of significance in linkage analysis studies with additional fine-mapping and replication.
Tissue localization
FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.
Avian FOXE1 is also expressed in developing feathers.
See also
* FOX proteins
FOX (forkhead box) 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. Many FOX proteins are important to embryonic ...
References
Further reading
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External links
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Forkhead transcription factors
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