HESX1

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HESX homeobox 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols HESX1 ; ANF; CPHD5; RPX
External IDs OMIM601802 MGI96071 HomoloGene20831 GeneCards: HESX1 Gene
Orthologs
Species Human Mouse
Entrez 8820 15209
Ensembl ENSG00000163666 ENSMUSG00000040726
UniProt Q9UBX0 Q61658
RefSeq (mRNA) NM_003865 NM_010420
RefSeq (protein) NP_003856 NP_034550
Location (UCSC) Chr 3:
57.23 – 57.26 Mb
Chr 14:
27 – 27 Mb
PubMed search [1] [2]

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.[1]

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[2] or Pickardt-Fahlbusch syndrome.[3]

References[edit]

  1. ^ "Entrez Gene: HESX homeobox 1". 
  2. ^ 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. 
  3. ^ 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]