FOXE1

Forkhead box protein E1 is a is_associated_with::protein that in humans is encoded by the FOXE1 is_associated_with::gene.

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

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

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

The region surrounding the FOXE1 gene has shown association in the pathogenesis of is_associated_with::cleft lip and palate 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.