PITX1 : paired like homeodomain 1

Description

The PITX1 (paired like homeodomain 1) is a protein-coding gene located on chromosome 5.

The PITX1 gene provides instructions for making a protein that plays a critical role in the development of the lower limbs. The PITX1 protein is found primarily in the developing legs and feet. This protein acts as a transcription factor, binding to specific regions of DNA to regulate the activity of particular genes. Specifically, PITX1 controls the shape and structure of tissues in the lower limbs, including bones, muscles, and tendons. Additionally, PITX1 is found in the developing pituitary gland and an embryonic structure called the branchial arch, suggesting a role in their formation. Tissues derived from the branchial arch, such as the roof of the mouth, jaw, and parts of the inner ear, may also be influenced by PITX1.

PITX1 is also known as BFT, CCF, LBNBG, POTX, PTX1.

Associated Diseases

• Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
• Brachydactyly-elbow wrist dysplasia syndrome
• Liebenberg syndrome