HESX1 Antibody – Mouse Polyclonal

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]

HESX1: 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. Defects in HESX1 are a cause of septooptic dysplasia (SOD); 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. Defects in HESX1 are a cause of growth hormone deficiency with pituitary anomalies (GHDPA). Defects in HESX1 are the cause of pituitary hormone deficiency combined type 5 (CPHD5). This disorder is manifested by deficiencies in anterior pituitary tropic hormones. week-old embryo. Belongs to the ANF homeobox family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 3p14.3

Cellular Component: nucleus

Molecular Function: protein C-terminus binding; protein binding; DNA binding; sequence-specific DNA binding; protein N-terminus binding; chromatin binding

Biological Process: transcription, DNA-dependent; brain development; otic vesicle formation; negative regulation of transcription, DNA-dependent; forebrain morphogenesis; nose development

Disease: Septooptic Dysplasia