Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene. [4] [5] [6]
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 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.
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]
Treacle protein is a protein that in humans is encoded by the TCOF1 gene.
Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.
The thyroid hormone receptor (TR) is a type of nuclear receptor that is activated by binding thyroid hormone. TRs act as transcription factors, ultimately affecting the regulation of gene transcription and translation. These receptors also have non-genomic effects that lead to second messenger activation, and corresponding cellular response.
Forkhead box protein C2 (FOXC2) also known as forkhead-related protein FKHL14 (FKHL14), transcription factor FKH-14, or mesenchyme fork head protein 1 (MFH1) is a protein that in humans is encoded by the FOXC2 gene. FOXC2 is a member of the fork head box (FOX) family of transcription factors.
The sodium/iodide cotransporter, also known as the sodium/iodide symporter (NIS), is a protein that in humans is encoded by the SLC5A5 gene. It is a transmembrane glycoprotein with a molecular weight of 87 kDa and 13 transmembrane domains, which transports two sodium cations (Na+) for each iodide anion (I−) into the cell. NIS mediated uptake of iodide into follicular cells of the thyroid gland is the first step in the synthesis of thyroid hormone.
NK2 homeobox 1 (NKX2-1), also known as thyroid transcription factor 1 (TTF-1), is a protein which in humans is encoded by the NKX2-1 gene.
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene.
Forkhead box protein L2 is a protein that in humans is encoded by the FOXL2 gene.
Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.
Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene.
Forkhead box protein N3 is a protein that in humans is encoded by the FOXN3 gene.
Forkhead box protein D4 is a protein that in humans is encoded by the FOXD4 gene.
T-box transcription factor TBX22 is a protein that in humans is encoded by the TBX22 gene.
Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene.
Thyroid stimulating hormone, beta also known as TSHB is a protein which in humans is encoded by the TSHB gene.
Thyroid dysgenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped. It should not be confused with iodine deficiency, or with other forms of congenital hypothyroidism, such as thyroid dyshormonogenesis, where the thyroid is present but not functioning correctly.
Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.
Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis. It is due to recessive mutations in forkhead/winged-helix domain transcription factor. It is associated with FOXE1.
Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.
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