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The official name of this gene is “forkhead box C2 (MFH-1, mesenchyme forkhead 1).”
FOXC2 is the gene's official symbol. The FOXC2 gene is also known by other names, listed below.
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).
The FOXC2 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.
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.
Cytogenetic Location: 16q24.1
Molecular Location on chromosome 16: base pairs 86,567,250 to 86,568,932
The FOXC2 gene is located on the long (q) arm of chromosome 16 at position 24.1.
More precisely, the FOXC2 gene is located from base pair 86,567,250 to base pair 86,568,932 on chromosome 16.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about FOXC2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; cardiovascular ; DNA ; gene ; lymphedema ; protein ; syndrome ; transcription ; transcription factor ; veins
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.