HESX1

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]

Full Name

HESX1

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.

Biological Process

Brain development Source: ProtInc
Camera-type eye development Source: Ensembl
Canonical Wnt signaling pathway Source: Ensembl
Cellular response to cadmium ion Source: Ensembl
ERK1 and ERK2 cascade Source: Ensembl
Forebrain morphogenesis Source: Ensembl
Gene expression Source: Ensembl
Gonad development Source: Ensembl
Leukemia inhibitory factor signaling pathway Source: Ensembl
Multicellular organism growth Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: NTNU_SB
Nose development Source: Ensembl
Otic vesicle formation Source: Ensembl
Pituitary gland development Source: UniProtKB
Regulation of embryonic development Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Stem cell differentiation Source: Ensembl
Stem cell population maintenance Source: Ensembl
Thyroid gland development Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

Septooptic dysplasia (SOD):
A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum.
Growth hormone deficiency with pituitary anomalies (GHDPA):
A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe.
Pituitary hormone deficiency, combined, 5 (CPHD5):
Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.