HESX1 Polyclonal Antibody

developmental stage:Strongly expressed in Rathke pouch in seven-week-old embryo.,disease:Defects in HESX1 are a cause of septooptic dysplasia (SOD) [MIM:182230]; also known as de Morsier syndrome. SOD is a rare autosomal recessive disease. SOD is characterized by optic nerve hypoplasia, absence of the corpus callosum and hypoplasia of the pituitary gland with panhypopopituitarism.,disease:Defects in HESX1 are associated with pituitary dwarfism III [MIM:262600]; also known as combined pituitary hormone deficiency (CPHD). This syndrome is manifested by deficiencies in anterior pituitary tropic hormones.,function:Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation.,similarity:Belongs to the ANF homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Can form heterodimers with PROP1 in binding to DNA (By similarity). Interacts with TLE1.,