HESX1


Also found in: Acronyms, Wikipedia.

HESX1

A gene on chromosome 3p14.3 that encodes a putative DNA-binding transcription factor required for the normal development of the forebrain, eyes and other anterior structures, such as the olfactory placodes and pituitary gland. It is strongly expressed in Rathke’s pouch in the 7-week-old embryo.

Molecular pathology
Defects in HESX1 are linked to growth hormone deficiency with pituitary anomalies, combined pituitary hormone deficiency type 5, and septo optic dysplasia—all three of which are classified as OMIM:182230.
References in periodicals archive ?
33 AR Blue cone monochromacy COD5 OPN1L/MW Xq28 XL Optic nerve hypoplasia PAX6 11p13 AD (septo-optic dysplasia) HESX1 3p14.
Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
Mutations in the genes HESX1, SOX2, SOX3 and OTX2 have been implicated.