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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.

Read more about gene names and symbols on the About page.

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? 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) (NCBIThis link leads to a site outside Genetics Home Reference.)

The FOXF1 gene is located on the long (q) arm of chromosome 16 at position 24.

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? in the Handbook.

Where can I find additional information about FOXF1?

You and your healthcare professional may find the following resources about FOXF1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the FOXF1 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding FOXF1?

acids ; DNA ; dysplasia ; embryonic ; gastrointestinal ; gene ; protein ; pulmonary ; tissue ; transcription ; transcription factor ; veins

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)


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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: May 2010
Published: February 8, 2016