FOXI1
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
Mutations in this gene are associated with enlarged vestibular aqueduct.[2]
See also
References
- 1 2 "Entrez Gene: Forkhead box I1". Retrieved 2011-12-24.
- ↑ 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. doi:10.1086/518314. PMC 1867094. PMID 17503324.
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. doi:10.1124/mol.63.5.1180. PMID 12695546.
- 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. doi:10.1089/lrb.2007.1022. PMID 18564921.
- 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. doi:10.1371/journal.pone.0004471. PMC 2637605. PMID 19214237.
- 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. doi:10.1016/j.ijporl.2010.06.002. PMID 20621367.
- 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. doi:10.1186/1471-2148-10-267. PMC 2939579. PMID 20809947.
- 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. doi:10.1073/pnas.90.9.3948. PMC 46423. PMID 7683413.
- 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. PMC 395442. PMID 7957066.
- 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. doi:10.1006/geno.1995.1266. PMID 8825632.
- 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. doi:10.1074/jbc.272.21.13725. PMID 9153225.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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