HESX1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
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.[5]
External IDsOMIM: 601802; MGI: 96071; HomoloGene: 20831; GeneCards: HESX1; OMA:HESX1 - orthologs
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[6] or Pickardt-Fahlbusch syndrome.[7]