FOXE1

Source: Wikipedia, the free encyclopedia.
FOXE1
Identifiers
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_004473

NM_183298

RefSeq (protein)

NP_004464

NP_899121

Location (UCSC)Chr 9: 97.85 – 97.86 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.[4][5][6]

Location

The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22[7]

Function

This intronless gene belongs to the

transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis
.

Clinical significance

Mutations in this gene cause

cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I.[6]

The region surrounding the FOXE1 gene has shown association in the pathogenesis of

cleft lip and palate with genome-wide levels of significance in linkage analysis studies with additional fine-mapping and replication.[8]

Tissue localization

FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.[9]

Avian FOXE1 is also expressed in developing feathers.[10]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178919 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. PMID 9169137
    .
  5. .
  6. ^ a b "Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)".
  7. ^ FOXE1
  8. ^
    PMID 21331089
    .
  9. .
  10. .

Further reading

External links


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