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HESX1A 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.
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.
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