FOXI1 explained
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. Two transcript variants encoding different isoforms have been found for this gene.[1]
Clinical significance
Mutations in this gene are associated with enlarged vestibular aqueduct.[2]
See also
References
Further reading
- Rodríguez-Antona C, Bort R, Jover R, Tindberg N, Ingelman-Sundberg M, Gómez-Lechón MJ, Castell JV . Transcriptional regulation of human CYP3A4 basal expression by CCAAT enhancer-binding protein alpha and hepatocyte nuclear factor-3 gamma . Molecular Pharmacology . 63 . 5 . 1180–9 . May 2003 . 12695546 . 10.1124/mol.63.5.1180 . 34628968 .
- Ferrell RE, Kimak MA, Lawrence EC, Finegold DN . Candidate gene analysis in primary lymphedema . Lymphatic Research and Biology . 6 . 2 . 69–76 . 2008 . 18564921 . 10.1089/lrb.2007.1022 .
- Vidarsson H, Westergren R, Heglind M, Blomqvist SR, Breton S, Enerbäck S . 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 . 2009 . 19214237 . 2637605 . 10.1371/journal.pone.0004471 . 2009PLoSO...4.4471V . Callaerts . Patrick . free .
- Jonard L, Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T, Thuillier-Obstoy MF, Couderc R, Garabédian EN, Denoyelle F, Marlin S . Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct . International Journal of Pediatric Otorhinolaryngology . 74 . 9 . 1049–53 . September 2010 . 20621367 . 10.1016/j.ijporl.2010.06.002 .
- Moreno-Estrada A, Aparicio-Prat E, Sikora M, Engelken J, Ramírez-Soriano A, Calafell F, Bosch E . African signatures of recent positive selection in human FOXI1 . BMC Evolutionary Biology . 10 . 267 . 2010 . 1 . 20809947 . 2939579 . 10.1186/1471-2148-10-267 . 2010BMCEE..10..267M . free .
- Clevidence DE, Overdier DG, Tao W, Qian X, Pani L, Lai E, Costa RH . 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 . 3948–52 . May 1993 . 7683413 . 46423 . 10.1073/pnas.90.9.3948 . 1993PNAS...90.3948C . free .
- Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P . Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending . The EMBO Journal . 13 . 20 . 5002–12 . October 1994 . 7957066 . 395442 . 10.1002/j.1460-2075.1994.tb06827.x .
- Larsson C, Hellqvist M, Pierrou S, White I, Enerbäck S, Carlsson P . Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12) . Genomics . 30 . 3 . 464–9 . December 1995 . 8825632 . 10.1006/geno.1995.1266 .
- Overdier DG, Ye H, Peterson RS, Clevidence DE, Costa RH . 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 . 13725–30 . May 1997 . 9153225 . 10.1074/jbc.272.21.13725 . free .
External links
Notes and References
- Web site: Entrez Gene: Forkhead box I1. 2011-12-24 .
- Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ . 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 . June 2007 . 17503324 . 1867094 . 10.1086/518314 .
