FOXG1

2018-12-17T15:55:42Z

165.206.222.18: Removed misleading comment about mortality and updated information about known functions.

{{Infobox_gene}}
'''Forkhead box protein G1''' is a [[protein]] that in humans is encoded by the ''FOXG1'' [[gene]].<ref name="pmid7959731">{{cite journal | vauthors = Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schulz-Schaeffer W, Thies U | title = Human brain factor 1, a new member of the fork head gene family | journal = Genomics | volume = 21 | issue = 3 | pages = 551–7 | date = Nov 1994 | pmid = 7959731 | pmc = | doi = 10.1006/geno.1994.1313 }}</ref><ref name="pmid17260156">{{cite journal | vauthors = Bredenkamp N, Seoighe C, Illing N | title = Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation | journal = Dev Genes Evol | volume = 217 | issue = 3 | pages = 227–33 | date = Feb 2007 | pmid = 17260156 | pmc = | doi = 10.1007/s00427-006-0128-x }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FOXG1B forkhead box G1B| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2290| accessdate = }}</ref>

== Function ==

This gene belongs to the forkhead family of transcription factors that is characterized by a distinct forkhead domain. The complete function of this gene has not yet been determined; however, it has been shown to play a role in the development of the brain and telencephalon. Mutations of FOXG1 are the cause of FoxG1 Syndrome<ref>https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443837/</ref>.

==FOXG1 syndrome==
FoxG1 Syndrome is characterized by microcephaly and brain malformations. It affects most aspects of development and can cause seizures. FOXG1 syndrome is classified as an [[Autism Spectrum Disorder]] and was previously considered a variant of [[Rett syndrome]].<ref>{{cite web | url=http://ghr.nlm.nih.gov/condition/foxg1-syndrome | title=FOXG1 syndrome}}</ref><ref>{{cite web | url=http://dnatesting.uchicago.edu/blog/foxg1-syndrome-more-congenital-variant-rett-syndrome | title=FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? | the University of Chicago Genetic Services}}</ref>

== Interactions ==

FOXG1 has been shown to [[Protein-protein interaction|interact]] with [[JARID1B]].<ref name=pmid12657635>{{cite journal | vauthors = Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS | title = Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9 | journal = J. Biol. Chem. | volume = 278 | issue = 23 | pages = 20507–13 | date = Jun 2003 | pmid = 12657635 | doi = 10.1074/jbc.M301994200 }}</ref>

== See also ==
* [[FOX proteins]]

== References ==
{{reflist}}
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== Further reading ==
{{refbegin | 2}}
* {{cite journal | vauthors = Li J, Chang HW, Lai E, Parker EJ, Vogt PK | title = The oncogene qin codes for a transcriptional repressor | journal = Cancer Res. | volume = 55 | issue = 23 | pages = 5540–4 | year = 1995 | pmid = 7585630 | doi = }}
* {{cite journal | vauthors = Wiese S, Murphy DB, Schlung A, Burfeind P, Schmundt D, Schnülle V, Mattei MG, Thies U | title = The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q | journal = Biochim. Biophys. Acta | volume = 1262 | issue = 2–3 | pages = 105–12 | year = 1995 | pmid = 7599184 | doi = 10.1016/0167-4781(95)00059-p }}
* {{cite journal | vauthors = Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P | title = Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending | journal = EMBO J. | volume = 13 | issue = 20 | pages = 5002–12 | year = 1994 | pmid = 7957066 | pmc = 395442 | doi = }}
* {{cite journal | vauthors = Li J, Vogt PK | title = The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 90 | issue = 10 | pages = 4490–4 | year = 1993 | pmid = 8099441 | pmc = 46537 | doi = 10.1073/pnas.90.10.4490 }}
* {{cite journal | vauthors = Kastury K, Li J, Druck T, Su H, Vogt PK, Croce CM, Huebner K | title = The human homologue of the retroviral oncogene qin maps to chromosome 14q13 | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 91 | issue = 9 | pages = 3616–8 | year = 1994 | pmid = 8170957 | pmc = 43631 | doi = 10.1073/pnas.91.9.3616 }}
* {{cite journal | vauthors = Huh S, Hatini V, Marcus RC, Li SC, Lai E | title = Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression | journal = Dev. Biol. | volume = 211 | issue = 1 | pages = 53–63 | year = 1999 | pmid = 10373304 | doi = 10.1006/dbio.1999.9303 }}
* {{cite journal | vauthors = Dou CL, Li S, Lai E | title = Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres | journal = Cereb. Cortex | volume = 9 | issue = 6 | pages = 543–50 | year = 1999 | pmid = 10498272 | doi = 10.1093/cercor/9.6.543 }}
* {{cite journal | vauthors = Dou C, Lee J, Liu B, Liu F, Massague J, Xuan S, Lai E | title = BF-1 Interferes with Transforming Growth Factor β Signaling by Associating with Smad Partners | journal = Mol. Cell. Biol. | volume = 20 | issue = 17 | pages = 6201–11 | year = 2000 | pmid = 10938097 | pmc = 86095 | doi = 10.1128/MCB.20.17.6201-6211.2000 }}
* {{cite journal | vauthors = Yao J, Lai E, Stifani S | title = The Winged-Helix Protein Brain Factor 1 Interacts with Groucho and Hes Proteins To Repress Transcription | journal = Mol. Cell. Biol. | volume = 21 | issue = 6 | pages = 1962–72 | year = 2001 | pmid = 11238932 | pmc = 86788 | doi = 10.1128/MCB.21.6.1962-1972.2001 }}
* {{cite journal | vauthors = Rodriguez C, Huang LJ, Son JK, McKee A, Xiao Z, Lodish HF | title = Functional cloning of the proto-oncogene brain factor-1 (BF-1) as a Smad-binding antagonist of transforming growth factor-beta signaling | journal = J. Biol. Chem. | volume = 276 | issue = 32 | pages = 30224–30 | year = 2001 | pmid = 11387330 | doi = 10.1074/jbc.M102759200 }}
* {{cite journal | vauthors = Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS | title = Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9 | journal = J. Biol. Chem. | volume = 278 | issue = 23 | pages = 20507–13 | year = 2003 | pmid = 12657635 | doi = 10.1074/jbc.M301994200 }}
* {{cite journal | vauthors = Seoane J, Le HV, Shen L, Anderson SA, Massagué J | title = Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation | journal = Cell | volume = 117 | issue = 2 | pages = 211–23 | year = 2004 | pmid = 15084259 | doi = 10.1016/S0092-8674(04)00298-3 }}
* {{cite journal | vauthors = Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM | title = Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly | journal = Hum. Genet. | volume = 117 | issue = 6 | pages = 536–44 | year = 2005 | pmid = 16133170 | doi = 10.1007/s00439-005-1310-3 }}
{{refend}}

== External links ==
* International FOXG1 Foundation [https://foxg1.org Information on FOXG1 Syndrome and Support ]
* {{MeshName|FOXG1B+protein,+human}}

{{Transcription factors|g3}}

{{NLM content}}

[[Category:Forkhead transcription factors]]

{{gene-14-stub}}

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FOXG1