Species Human Entrez 8820 | Human Mouse Ensembl ENSG00000163666 | |
Aliases HESX1, ANF, CPHD5, RPX, HESX homeobox 1 External IDs OMIM: 601802 MGI: 96071 HomoloGene: 20831 GeneCards: HESX1 | ||
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
HESX1 Wikipedia(Text) CC BY-SA