HESX1
From Infogalactic: the planetary knowledge core
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.[1]
Expression of HEX1 and HESX1 marks the anterior visceral endoderm of the embryo. The AVE is an extra-embryonic tissue, key to the establishment of the anterior-posterior body axis.
Clinical significance
Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia[2] or Pickardt-Fahlbusch syndrome.[3]
References
Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
- HESX1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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