Reviewed May 2010
What is the official name of the FOXF1 gene?
The official name of this gene is “forkhead box F1.”
FOXF1 is the gene's official symbol. The FOXF1 gene is also known by other names, listed below.
What is the normal function of the FOXF1 gene?
The FOXF1 gene provides instructions for making the forkhead box F1 (FOXF1) protein. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in the development of pulmonary mesenchyme, the embryonic tissue from which blood vessels of the lung arise. It is also involved in the development of the gastrointestinal tract.
Does the FOXF1 gene share characteristics with other genes?
The FOXF1 gene belongs to a family of genes called FOX (forkhead box genes).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the FOXF1 gene related to health conditions?
- alveolar capillary dysplasia with misalignment of pulmonary veins - caused by mutations in the FOXF1 gene
At least four mutations in the FOXF1 gene have been identified in infants with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV). Some mutations change single protein building blocks (amino acids) used to make the FOXF1 protein. Other mutations insert or delete genetic material in the FOXF1 gene. These mutations result in an inactive protein that cannot regulate development, leading to abnormal formation of the pulmonary blood vessels. Affected infants with FOXF1 gene mutations usually also have gastrointestinal abnormalities.
Where is the FOXF1 gene located?
Cytogenetic Location: 16q24
Molecular Location on chromosome 16: base pairs 86,510,527 to 86,514,464
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/2294))
The FOXF1 gene is located on the long (q) arm of chromosome 16 at position 24.
More precisely, the FOXF1 gene is located from base pair 86,510,527 to base pair 86,514,464 on chromosome 16.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about FOXF1?
You and your healthcare professional may find the following resources about FOXF1 helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for FOXF1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2294%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28FOXF1%5BTIAB%5D%29%20OR%20%28forkhead%20box%20F1%5BTIAB%5D%29%29%20OR%20%28FKHL5%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202160%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/601089)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/FOXF1ID40628ch16q24.html)
- HGNC Gene Family: Forkhead boxes (http://www.genenames.org/cgi-bin/genefamilies/set/508)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=3809)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2294)
What other names do people use for the FOXF1 gene or gene products?
- Forkhead, drosophila, homolog-like 5
- forkhead-related activator 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding FOXF1?
transcription factor ;
You may find definitions for these and many other terms in the Genetics Home Reference
- OMIM: FORKHEAD BOX F1 (http://omim.org/entry/601089)
- Kalinichenko VV, Gusarova GA, Kim IM, Shin B, Yoder HM, Clark J, Sapozhnikov AM, Whitsett JA, Costa RH. Foxf1 haploinsufficiency reduces Notch-2 signaling during mouse lung development. Am J Physiol Lung Cell Mol Physiol. 2004 Mar;286(3):L521-30. Epub 2003 Nov 7. (http://www.ncbi.nlm.nih.gov/pubmed/14607778?dopt=Abstract)
- Kim IM, Zhou Y, Ramakrishna S, Hughes DE, Solway J, Costa RH, Kalinichenko VV. Functional characterization of evolutionarily conserved DNA regions in forkhead box f1 gene locus. J Biol Chem. 2005 Nov 11;280(45):37908-16. Epub 2005 Sep 6. (http://www.ncbi.nlm.nih.gov/pubmed/16144835?dopt=Abstract)
- Lomenick JP, Hubert MA, Handwerger S. Transcription factor FOXF1 regulates growth hormone variant gene expression. Am J Physiol Endocrinol Metab. 2006 Nov;291(5):E947-51. Epub 2006 Jun 13. (http://www.ncbi.nlm.nih.gov/pubmed/16772323?dopt=Abstract)
- Madison BB, McKenna LB, Dolson D, Epstein DJ, Kaestner KH. FoxF1 and FoxL1 link hedgehog signaling and the control of epithelial proliferation in the developing stomach and intestine. J Biol Chem. 2009 Feb 27;284(9):5936-44. doi: 10.1074/jbc.M808103200. Epub 2008 Dec 2. (http://www.ncbi.nlm.nih.gov/pubmed/19049965?dopt=Abstract)
- Maeda Y, Davé V, Whitsett JA. Transcriptional control of lung morphogenesis. Physiol Rev. 2007 Jan;87(1):219-44. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17237346?dopt=Abstract)
- Malin D, Kim IM, Boetticher E, Kalin TV, Ramakrishna S, Meliton L, Ustiyan V, Zhu X, Kalinichenko VV. Forkhead box F1 is essential for migration of mesenchymal cells and directly induces integrin-beta3 expression. Mol Cell Biol. 2007 Apr;27(7):2486-98. Epub 2007 Jan 29. (http://www.ncbi.nlm.nih.gov/pubmed/17261592?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2294)
- Shaw-Smith C. Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet. 2010 Jan-Feb;53(1):6-13. doi: 10.1016/j.ejmg.2009.10.001. Epub 2009 Oct 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19822228?dopt=Abstract)
- Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Erratum in: Am J Hum Genet. 2009 Oct;85(4):537. multiple author names added. (http://www.ncbi.nlm.nih.gov/pubmed/19500772?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.