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.
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.
^Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schulz-Schaeffer W, Thies U (Nov 1994). "Human brain factor 1, a new member of the fork head gene family". Genomics. 21 (3): 551–7. doi:10.1006/geno.1994.1313. PMID7959731.
^Bredenkamp N, Seoighe C, Illing N (Feb 2007). "Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation". Dev Genes Evol. 217 (3): 227–33. doi:10.1007/s00427-006-0128-x. PMID17260156. S2CID20867411.
Li J, Chang HW, Lai E, Parker EJ, Vogt PK (1995). "The oncogene qin codes for a transcriptional repressor". Cancer Res. 55 (23): 5540–4. PMID7585630.
Wiese S, Murphy DB, Schlung A, Burfeind P, Schmundt D, Schnülle V, Mattei MG, Thies U (1995). "The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q". Biochim. Biophys. Acta. 1262 (2–3): 105–12. doi:10.1016/0167-4781(95)00059-p. PMID7599184.
Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM (2005). "Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly". Hum. Genet. 117 (6): 536–44. doi:10.1007/s00439-005-1310-3. PMID16133170. S2CID2819134.