基因名称(Gene Name)
HESX1 HANF
蛋白名称
Homeobox expressed in ES cells 1 (Homeobox protein ANF) (hAnf)
免疫原
Synthesized peptide derived from part region of human protein
特异性
HESX1 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008],
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 heter
