HESX1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

PDBOrtholog search: PDBe RCSB
AliasesHESX1, ANF, CPHD5, RPX, HESX homeobox 1
Quick facts Available structures, PDB ...
HESX1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHESX1, ANF, CPHD5, RPX, HESX homeobox 1
External IDsOMIM: 601802; MGI: 96071; HomoloGene: 20831; GeneCards: HESX1; OMA:HESX1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
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
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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]

References

Further reading

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