FOXI1

Forkhead box I1 is a protein that in humans is encoded by the FOXI1 gene.[5]

FOXI1
Identifiers
AliasesFOXI1, FKH10, FKHL10, FREAC-6, FREAC6, HFH-3, HFH3, forkhead box I1
External IDsOMIM: 601093 MGI: 1096329 HomoloGene: 8140 GeneCards: FOXI1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q35.1Start170,105,897 bp[1]
End170,109,734 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

2299

14233

Ensembl

ENSG00000168269

ENSMUSG00000047861

UniProt

Q12951

Q922I5

RefSeq (mRNA)

NM_012188
NM_144769

NM_023907

RefSeq (protein)

NP_036320
NP_658982

NP_076396

Location (UCSC)Chr 5: 170.11 – 170.11 MbChr 11: 34.2 – 34.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. wo transcript variants encoding different isoforms have been found for this gene.[5]

Clinical significance

Mutations in this gene are associated with enlarged vestibular aqueduct.[6]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000168269 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000047861 - Ensembl, 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: Forkhead box I1". Retrieved 2011-12-24.
  6. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ (June 2007). "Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)". American Journal of Human Genetics. 80 (6): 1055–63. doi:10.1086/518314. PMC 1867094. PMID 17503324.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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