World Library  
Flag as Inappropriate
Email this Article




Forkhead box I1
Symbols  ; FKH10; FKHL10; FREAC-6; FREAC6; HFH-3; HFH3
External IDs GeneCards:
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Forkhead box I1 is a protein that in humans is encoded by the FOXI1 gene.[1]

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.[1]


  • Clinical significance 1
  • See also 2
  • References 3
  • Further reading 4
  • External links 5

Clinical significance

Mutations in this gene are associated with enlarged vestibular aqueduct.[2]

See also


  1. ^ a b "Entrez Gene: Forkhead box I1". Retrieved 2011-12-24. 
  2. ^ 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)". Am. J. Hum. Genet. 80 (6): 1055–63.  

Further reading

  • Rodríguez-Antona, C.; Bort, R.; Jover, R.; Tindberg, N.; Ingelman-Sundberg, M.; Gómez-Lechón, M. J.; Castell, J. V. (2003). "Transcriptional regulation of human CYP3A4 basal expression by CCAAT enhancer-binding protein alpha and hepatocyte nuclear factor-3 gamma". Molecular Pharmacology 63 (5): 1180–1189.  
  • Ferrell, R. E.; Kimak, M. A.; Lawrence, E. C.; Finegold, D. N. (2008). "Candidate Gene Analysis in Primary Lymphedema". Lymphatic Research and Biology 6 (2): 69–76.  
  • Vidarsson, H.; Westergren, R.; Heglind, M.; Blomqvist, S. R.; Breton, S.; Enerbäck, S. (2009). Callaerts, Patrick, ed. "The Forkhead Transcription Factor Foxi1 is a Master Regulator of Vacuolar H+-ATPase Proton Pump Subunits in the Inner Ear, Kidney and Epididymis". PLoS ONE 4 (2): e4471.  
  • Jonard, L.; Niasme-Grare, M.; Bonnet, C.; Feldmann, D.; Rouillon, I.; Loundon, N.; Calais, C.; Catros, H. L. N.; David, A.; Dollfus, H. L. N.; Drouin-Garraud, V. R.; Duriez, F. O.; Eliot, M. M.; Fellmann, F.; Francannet, C.; Gilbert-Dussardier, B.; Gohler, C.; Goizet, C.; Journel, H.; Mom, T.; Thuillier-Obstoy, M. F. O.; Couderc, R.; Garabédian, E. A. N. L.; Denoyelle, F. O.; Marlin, S. (2010). "Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct". International Journal of Pediatric Otorhinolaryngology 74 (9): 1049–1053.  
  • Moreno-Estrada, A. S.; Aparicio-Prat, E.; Sikora, M.; Engelken, J.; Ramírez-Soriano, A.; Calafell, F.; Bosch, E. (2010). "African signatures of recent positive selection in human FOXI1". BMC Evolutionary Biology 10: 267.  
  • Clevidence, D. E.; Overdier, D. G.; Tao, W.; Qian, X.; Pani, L.; Lai, E.; Costa, R. H. (1993). "Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3/forkhead DNA-binding-domain family". Proceedings of the National Academy of Sciences of the United States of America 90 (9): 3948–3952.  
  • Pierrou, S.; Hellqvist, M.; Samuelsson, L.; Enerbäck, S.; Carlsson, P. (1994). "Cloning and characterization of seven human forkhead proteins: Binding site specificity and DNA bending". The EMBO Journal 13 (20): 5002–5012.  
  • Larsson, C.; Hellqvist, M.; Pierrou, S.; White, I.; Enerbäck, S.; Carlsson, P. (1995). "Chromosomal Localization of Six Human Forkhead Genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)". Genomics 30 (3): 464–469.  
  • Overdier, D. G.; Ye, H.; Peterson, R. S.; Clevidence, D. E.; Costa, R. H. (1997). "The winged helix transcriptional activator HFH-3 is expressed in the distal tubules of embryonic and adult mouse kidney". The Journal of Biological Chemistry 272 (21): 13725–13730.  

External links

  • GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4

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

This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.

Copyright © World Library Foundation. All rights reserved. eBooks from Hawaii eBook Library are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.