功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus .
组织表达： Fibrosarcoma,Teratocarcinoma,
科研货号： PLA006625
HESX1 Polyclonal Antibody
Catalog NoPLA006625
Product information
基因名称： HESX1 HANF
蛋白名称： Homeobox expressed in ES cells 1 (Homeobox protein ANF) (hAnf)
功能： 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.,
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