RefSeq (protein)



Location (UCSC) Chr 3: 57.2 – 57.23 Mb Chr 14: 26.99 – 27 Mb PubMed search [3] [4] Wikidata
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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]

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]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163666 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040726 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ "Entrez Gene: HESX homeobox 1". 
  6. ^ Dattani MT, Martinez-Barbera JP, Thomas PQ, et al. (1998). "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse". Nat. Genet. 19 (2): 125–33. doi:10.1038/477. PMID 9620767. 
  7. ^ Reynaud R, Albarel F, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T (January 2011). "Pituitary Stalk Interruption Syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms". Eur J Endocrinol. 164 (4): 457–65. doi:10.1530/EJE-10-0892. PMID 21270112. 

Further reading

External links