Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.[4][5][6]
The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22[7]
This intronless gene belongs to the forkhead familyoftranscription 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.
Mutations in this gene cause Bamforth-Lazarus syndrome[8] 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.[6]
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.[8]
FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.[9]
Avian FOXE1 is also expressed in developing feathers.[10]
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