forkhead box L2
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Der FOXL2 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. On the basis of this role, the FOXL2 protein is called a transcription factor. The protein contains one area where a protein building block (amino acid) called alanine is repeated multiple times. This stretch of alanines is known as a polyalanine tract or poly(A) tract. The function of this poly(A) tract is unknown.
Normal function
Der FOXL2 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. On the basis of this role, the FOXL2 protein is called a transcription factor. The protein contains one area where a protein building block (amino acid) called alanine is repeated multiple times. This stretch of alanines is known as a polyalanine tract or poly(A) tract. The function of this poly(A) tract is unknown.
The FOXL2 protein is active in multiple tissues, including the eyelids, the ovaries, and a hormone-producing gland at the base of the brain called the pituitary. It is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, the FOXL2 protein regulates the growth and division (proliferation) of hormone-producing ovarian cells called granulosa cells. This protein is also involved in the breakdown of fats, steroid hormones, and potentially harmful molecules called reactive oxygen species in the ovaries. The FOXL2 protein also plays a role in controlled cell death (apoptosis) in the ovaries.
Conditions referring to this gene or chromosome
Other names
BPES
BPES1
forkhead transcription factor FOXL2
FOXL2_HUMAN
PFRK
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Weiterführende Lektüre und Referenzen
- forkhead box L2; MedlinePlus, National Library of Medicine.
- Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819.
- Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009 Feb;30(2):158-69. doi: 10.1002/humu.20807.
- Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet. 2005 Aug;77(2):205-18. doi: 10.1086/432083. Epub 2005 Jun 16.
- Caburet S, Georges A, L'Hote D, Todeschini AL, Benayoun BA, Veitia RA. The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology. Mol Cell Endocrinol. 2012 Jun 5;356(1-2):55-64. doi: 10.1016/j.mce.2011.06.019. Epub 2011 Jul 8.
- Dipietromaria A, Benayoun BA, Todeschini AL, Rivals I, Bazin C, Veitia RA. Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems. Hum Mol Genet. 2009 Sep 1;18(17):3324-33. doi: 10.1093/hmg/ddp273. Epub 2009 Jun 10.
- Kuo FT, Bentsi-Barnes IK, Barlow GM, Pisarska MD. Mutant Forkhead L2 (FOXL2) proteins associated with premature ovarian failure (POF) dimerize with wild-type FOXL2, leading to altered regulation of genes associated with granulosa cell differentiation. Endocrinology. 2011 Oct;152(10):3917-29. doi: 10.1210/en.2010-0989. Epub 2011 Aug 23.
- Laissue P, Lakhal B, Benayoun BA, Dipietromaria A, Braham R, Elghezal H, Philibert P, Saad A, Sultan C, Fellous M, Veitia RA. Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2. J Med Genet. 2009 Jul;46(7):455-7. doi: 10.1136/jmg.2008.065086. Epub 2009 May 7.
- Moumne L, Batista F, Benayoun BA, Nallathambi J, Fellous M, Sundaresan P, Veitia RA. The mutations and potential targets of the forkhead transcription factor FOXL2. Mol Cell Endocrinol. 2008 Jan 30;282(1-2):2-11. doi: 10.1016/j.mce.2007.11.006. Epub 2007 Nov 19.
- Shah SP, Kobel M, Senz J, Morin RD, Clarke BA, Wiegand KC, Leung G, Zayed A, Mehl E, Kalloger SE, Sun M, Giuliany R, Yorida E, Jones S, Varhol R, Swenerton KD, Miller D, Clement PB, Crane C, Madore J, Provencher D, Leung P, DeFazio A, Khattra J, Turashvili G, Zhao Y, Zeng T, Glover JN, Vanderhyden B, Zhao C, Parkinson CA, Jimenez-Linan M, Bowtell DD, Mes-Masson AM, Brenton JD, Aparicio SA, Boyd N, Hirst M, Gilks CB, Marra M, Huntsman DG. Mutation of FOXL2 in granulosa-cell tumors of the ovary. N Engl J Med. 2009 Jun 25;360(26):2719-29. doi: 10.1056/NEJMoa0902542. Epub 2009 Jun 10.
- Todeschini AL, Dipietromaria A, L'hote D, Boucham FZ, Georges AB, Pandaranayaka PJ, Krishnaswamy S, Rivals I, Bazin C, Veitia RA. Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations. Hum Mol Genet. 2011 Sep 1;20(17):3376-85. doi: 10.1093/hmg/ddr244. Epub 2011 Jun 1.
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11 Apr 2023 | Neueste Version
1 Oct 2013 | Ursprünglich veröffentlicht
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