FoxE1 Polyclonal Antibody

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.,