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.
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 or Pickardt-Fahlbusch syndrome.
References
Further reading
External links
- GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
- HESX1 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
