HESX1

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HESX1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases HESX1, ANF, CPHD5, RPX, HESX homeobox 1
External IDs OMIM: 601802 MGI: 96071 HomoloGene: 20831 GeneCards: HESX1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003865

NM_010420

RefSeq (protein)

NP_003856.1

NP_034550.2

Location (UCSC) Chr 3: 57.2 – 57.23 Mb Chr 14: 27 – 27 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3]

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[edit]

Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia[4] or Pickardt-Fahlbusch syndrome.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: HESX homeobox 1". 
  4. ^ 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. 
  5. ^ 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[edit]

External links[edit]