[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 family of transcription factors, which is characterized by a distinct forkhead domain.

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.