FOXC2

FOXC2 is a gene that provides instructions for making a protein called the forkhead box protein C2. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the forkhead box protein C2 plays a critical role in the development of several tissues and organs before birth.

Function[edit | edit source]

The FOXC2 gene provides instructions for making a protein that is involved in the development of many parts of the body. This protein is a transcription factor, which means it helps control the activity of other genes. It binds to specific areas of DNA and helps regulate the activity of certain genes. This protein is thought to play a critical role in the development of several tissues and organs before birth.

Clinical significance[edit | edit source]

Mutations in the FOXC2 gene have been associated with a condition called lymphedema-distichiasis syndrome. This condition is characterized by swelling in certain parts of the body and the growth of extra eyelashes (distichiasis). The FOXC2 gene mutations that cause this condition result in the production of an abnormally short forkhead box protein C2. This shortened protein is unable to bind to DNA and regulate gene activity effectively, which disrupts the normal development of several tissues and organs.

References[edit | edit source]

External links[edit | edit source]

FOXC2 on the Genetics Home Reference website
FOXC2 on the National Center for Biotechnology Information website

FOXC2 Resources
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