Biology:FOXE1

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Short description: Mammalian protein found in Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.[1][2][3]

Location

The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22[4]

Function

This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis.

Clinical significance

Mutations in this gene cause Bamforth-Lazarus syndrome[5] and are associated with congenital hypothyroidism and cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I.[3]

The region surrounding the FOXE1 gene has shown association in the pathogenesis of cleft lip and palate with genome-wide levels of significance in linkage analysis studies with additional fine-mapping and replication.[5]

Tissue localization

FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.[6]

Avian FOXE1 is also expressed in developing feathers.[7]

See also

References

Further reading

External links