HESX1

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
HESX1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHESX1, ANF, CPHD5, RPX, HESX homeobox 1
External IDsOMIM: 601802 MGI: 96071 HomoloGene: 20831 GeneCards: HESX1
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for HESX1
Genomic location for HESX1
Band3p14.3Start57,197,838 bp[1]
End57,227,606 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003865

NM_010420

RefSeq (protein)

NP_003856

NP_034550

Location (UCSC)Chr 3: 57.2 – 57.23 MbChr 14: 26.99 – 27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[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[edit]

Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia[6] or Pickardt-Fahlbusch syndrome.[7]

References[edit]

  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[edit]

External links[edit]