FOXE1, FKHL15, FOXE2, TITF2, TTF2, Forkhead box protein E1, Forkhead box protein E2, Forkhead-related protein FKHL15, HFKH4, HNF-3/fork head-like protein 5, HFKL5, Thyroid transcription factor 2, TTF-2
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, Jul 2008],disease:Defects in FOXE1 are the cause of Bamforth-Lazarus syndrome [MIM:241850]. A disease associated with thyroid agenesis, cleft palate and choanal atresia.,function:Probable transcription factor. Could be involved in thyroid gland organogenesis.,polymorphism:An alanine stretch that varies from 12 to 19 residues is present. This polymorphisms can be used as a marker to study the role of FOXE1 in other cases of thyroid dysgenesis, especially in familial cases.,PTM:Phosphorylated.,sequence caution:Several conflicts.,similarity:Contains 1 fork-head DNA-binding domain.,tissue specificity:Detected in adult brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, heart, colon, small intestine testis and thymus. Expression was strongest in heart and pancreas.,
