HESX1


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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 ?
Alterations in pituitary development genes, such as PIT1, PROP1, HESX1, LHX3, LHX4, and SOX3 can result in CCH and multiple pituitary hormone deficiencies (1).
Mutations in the genes HESX1, SOX2, SOX3 and OTX2 have been implicated.
The most commonly recognized genetic defects associated with CPHD include mutations within PROP1, POU1F1, HESX1, LHX3, LHX4, OTX2, GLI2, and SOX3.