HESX1
Developmental stage
Strongly expressed in Rathke pouch in seven-week-old embryo.
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ANF homeobox family.
Cellular localization
- Nucleus
Alternative names
HANF, HESX1, Homeobox expressed in ES cells 1, Homeobox protein ANF, hAnf