The PITX1 gene provides instructions for making a protein that plays a critical role in the development of the legs and feet. The protein acts as a transcription factor, which means that it binds to specific regions of DNA and helps control the activity of particular genes. Specifically, the PITX1 protein regulates the activity of genes that direct the development of the bones and tissues in the legs, knees, ankles, and feet.
The PITX1 protein is also found in the embryonic structures called branchial arches that give rise to tissues in the face and neck and in the developing pituitary gland, which is a hormone-producing gland located at the base of the brain. Researchers suspect that the PITX1 protein may play a role in the formation of the pituitary gland and in the formation of certain tissues that are derived from the branchial arches, such as the roof of the mouth, the jaw, and parts of the inner ear.
Other Names
BFT; paired-like homeodomain 1; paired-like homeodomain transcription factor 1; pituitary homeobox 1; pituitary otx-related factor; POTX; PTX1
Related Genetics Topics
Identifiers
- NCBI Gene: 5307
- OMIM: 602149
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
