HESX1

Source: Wikipedia, the free encyclopedia.
HESX1
Available structures
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_003865
NM_001376058
NM_001376059
NM_001376060
NM_001376061

NM_010420

RefSeq (protein)

NP_003856
NP_001362987
NP_001362988
NP_001362989
NP_001362990

NP_034550

Location (UCSC)Chr 3: 57.2 – 57.23 MbChr 14: 26.72 – 26.72 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

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163666Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040726Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: HESX homeobox 1".
  6. S2CID 28880292
    .
  7. .

Further reading

External links


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