FOXE1 Antibody – Rabbit Polyclonal

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 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. [provided by RefSeq]

FOXE1: Probable transcription factor. Could be involved in thyroid gland organogenesis. Defects in FOXE1 are the cause of Bamforth-Lazarus syndrome (BLS). BLS is associated with thyroid agenesis, cleft palate and choanal atresia.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 9q22

Cellular Component: nucleus

Molecular Function: DNA binding; sequence-specific DNA binding; transcription factor activity

Biological Process: regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; embryonic organ morphogenesis; cell migration; anatomical structure morphogenesis; hair follicle morphogenesis; thymus development; positive regulation of transcription, DNA-dependent; hard palate development; thyroid gland development; thyroid hormone generation; negative regulation of transcription from RNA polymerase II promoter; soft palate development; negative regulation of transcription, DNA-dependent

Disease: Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate; Thyroid Cancer, Nonmedullary, 4