Forkhead box C1

Forkhead box C1 (also known as FOXC1) is a protein that in humans is encoded by the FOXC1 gene. This protein is a member of the Forkhead box family of transcription factors, which are characterized by a distinct forkhead domain. The specific function of this gene has not been determined, but it has been shown to play a role in the development of the eye, heart, and embryo.

Function[edit | edit source]

The FOXC1 protein is a transcription factor, which means it helps control the activity of other genes. It does this by binding to specific regions of DNA and helping to regulate the transcription of genetic information from DNA to mRNA. This protein is particularly important in the development of several tissues and organs during embryonic development.

In the eye, FOXC1 is involved in the development of the anterior segment, which includes the cornea, iris, and lens. Mutations in the FOXC1 gene can lead to eye disorders such as Axenfeld-Rieger syndrome, which is characterized by abnormalities in the anterior segment of the eye.

In the heart, FOXC1 is involved in the formation of the cardiac outflow tract, which is the portion of the heart that directs blood flow to the lungs and the rest of the body. Mutations in the FOXC1 gene can lead to heart defects.

In the embryo, FOXC1 is involved in the development of the neural crest, which is a group of cells that migrate from the developing spinal cord to form many different tissues and organs.

Clinical significance[edit | edit source]

Mutations in the FOXC1 gene can lead to a variety of disorders. These include Axenfeld-Rieger syndrome, which is characterized by eye abnormalities and can also include heart defects, dental abnormalities, and an increased risk of glaucoma. Other disorders associated with FOXC1 mutations include aniridia, a condition characterized by a partial or complete absence of the iris, and Peter's anomaly, which involves abnormalities in the front part of the eye.