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FOXF1 gene

forkhead box F1

Normal Function

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.

Health Conditions Related to Genetic Changes

Alveolar capillary dysplasia with misalignment of pulmonary veins

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.

More About This Health Condition

Other Names for This Gene

  • FKHL5
  • Forkhead, drosophila, homolog-like 5
  • forkhead-related activator 1
  • FREAC1
  • MGC105125

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases


  • 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. doi: 10.1152/ajplung.00212.2003. Epub 2003 Nov 7. Citation on PubMed
  • 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. doi: 10.1074/jbc.M506531200. Epub 2005 Sep 6. Citation on PubMed
  • 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. doi: 10.1152/ajpendo.00128.2006. Epub 2006 Jun 13. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • Maeda Y, Dave V, Whitsett JA. Transcriptional control of lung morphogenesis. Physiol Rev. 2007 Jan;87(1):219-44. doi: 10.1152/physrev.00028.2006. Citation on PubMed
  • 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. doi: 10.1128/MCB.01736-06. Epub 2007 Jan 29. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed or Free article on PubMed Central

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.