Biology:FOXG1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene.[1][2][3]

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.[4]

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.[5][6]

Interactions

FOXG1 has been shown to interact with JARID1B.[7]

See also

References

  1. "Human brain factor 1, a new member of the fork head gene family". Genomics 21 (3): 551–7. Nov 1994. doi:10.1006/geno.1994.1313. PMID 7959731. 
  2. "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. Feb 2007. doi:10.1007/s00427-006-0128-x. PMID 17260156. 
  3. "Entrez Gene: FOXG1B forkhead box G1B". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2290. 
  4. "FOXG1 is responsible for the congenital variant of Rett syndrome". Am. J. Hum. Genet. 83 (1): 89–93. 2008. doi:10.1016/j.ajhg.2008.05.015. PMID 18571142. 
  5. "FOXG1 syndrome". http://ghr.nlm.nih.gov/condition/foxg1-syndrome. 
  6. "FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? | the University of Chicago Genetic Services". http://dnatesting.uchicago.edu/blog/foxg1-syndrome-more-congenital-variant-rett-syndrome. 
  7. "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. 278 (23): 20507–13. Jun 2003. doi:10.1074/jbc.M301994200. PMID 12657635. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.