FOXE1
Mammalian protein found in Homo sapiens
From Wikipedia, the free encyclopedia
Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.[4][5][6]
Location
The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22[7]
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[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]
