Meyahealth
HomeGeneticsGeneFOXC2 gene
Back to Gene
FOXC2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FOXC2 gene

The FOXC2 gene provides instructions for making a protein that acts as a transcription factor, playing a critical role in the development of various tissues and organs before birth.

Normal Function

The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. 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. Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels).

Health Conditions Related to Genetic Changes

Lymphedema-distichiasis syndrome

More than 50 mutations in the FOXC2 gene can cause lymphedema-distichiasis syndrome. Most of these mutations insert or delete a few DNA building blocks (nucleotides), which results in a premature stop signal in the instructions for making the FOXC2 protein. These mutations lead to the production of a FOXC2 protein that is abnormally small and cannot effectively attach (bind) to DNA. As a result, the altered protein cannot regulate the activity of other genes.

Other mutations change one protein building block (amino acid) in the area of the FOXC2 protein that binds to DNA, preventing the protein from regulating gene activity. It is not clear why mutations in the FOXC2 gene affect the development of the eye area and lymphatic vessels, the primary regions of the body affected by lymphedema-distichiasis syndrome.

Other Names for This Gene

  • FKHL14
  • forkhead (Drosophila)-like 14
  • forkhead, Drosophila, homolog-like 14
  • FOXC2_HUMAN
  • LD
  • MFH-1
  • MFH-1,mesenchyme forkhead 1
  • MFH1

Frequently Asked Questions

Lymphedema-distichiasis syndrome is inherited in an autosomal dominant pattern. This means only one copy of the mutated FOXC2 gene is needed to cause the condition. An affected parent has a 50% chance of passing the mutation and the condition to each child.
The two main symptoms are lymphedema, which is swelling due to fluid buildup, most commonly affecting the legs, and distichiasis, which is the presence of an extra row of eyelashes that can irritate the eye. Less common features can include heart defects or cleft palate.
Treatment focuses on managing the symptoms. Lymphedema is managed with compression garments, massage, exercise, and careful skin care. Distichiasis may require removal of the extra eyelashes (epilation), cryotherapy, or surgery to prevent corneal irritation and damage. Regular monitoring for complications is also important.
Beyond lymphedema and distichiasis, individuals may experience recurrent infections in swollen limbs (cellulitis), vision problems due to corneal damage from the extra eyelashes, and, less commonly, heart abnormalities or spinal issues.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ