FOXG1

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FOXG1
Identifiers
Aliases FOXG1, BF1, BF2, FHKL3, FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C, HBF-1, HBF-2, HBF-3, HBF-G2, HBF2, HFK1, HFK2, HFK3, KHL2, QIN, forkhead box G1
External IDs MGI: 1347464 HomoloGene: 3843 GeneCards: 2290
RNA expression pattern
PBB GE FOXG1B 206018 at tn.png

PBB GE FOXG1B 207658 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005249

NM_001160112
NM_008241

RefSeq (protein)

NP_005240.3

NP_001153584.1
NP_032267.1

Location (UCSC) Chr 14: 28.77 – 28.77 Mb Chr 12: 49.38 – 49.39 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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 may play a role in the development of the brain and telencephalon. It likely causes problems if it is mutated in kids. Mutations cause high levels of mortality.[3]

Cajal Retzius Cell development is regulated by Foxg1

FOXG1 syndrome[edit]

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.[4][5]

Interactions[edit]

FOXG1 has been shown to interact with JARID1B.[6]

See also[edit]

References[edit]

  1. ^ 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. PMID 7959731. 
  2. ^ 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. PMID 17260156. 
  3. ^ a b "Entrez Gene: FOXG1B forkhead box G1B". 
  4. ^ http://ghr.nlm.nih.gov/condition/foxg1-syndrome
  5. ^ http://dnatesting.uchicago.edu/blog/foxg1-syndrome-more-congenital-variant-rett-syndrome
  6. ^ Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (Jun 2003). "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. doi:10.1074/jbc.M301994200. PMID 12657635. 

Further reading[edit]

External links[edit]

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