FOXE1
Encyclopedia
Forkhead box protein E1 is a protein
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 FOXE1 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...

.

Function

This intronless gene belongs to the forkhead family
FOX 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...

 of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid
Thyroid
The thyroid gland or simply, the thyroid , in vertebrate anatomy, is one of the largest endocrine glands. The thyroid gland is found in the neck, below the thyroid cartilage...

 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 likely plays a crucial role in thyroid morphogenesis
Morphogenesis
Morphogenesis , is the biological process that causes an organism to develop its shape...

.

Clinical significance

Mutations in this gene are associated with congenital hypothyroidism
Hypothyroidism
Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...

 and cleft palate with thyroid dysgenesis
Thyroid dysgenesis
Thyroid agenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped....

. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma
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...

 and hereditary sensory neuropathy
Peripheral neuropathy
Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of or trauma to the nerve or the side-effects of systemic illness....

type I.

Tissue localization

FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.
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