PITX2

PITX2 (Pituitary Homeobox 2) is a protein that in humans is encoded by the PITX2 gene. It is a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. PITX2 is involved in several important biological processes, including organogenesis, embryonic development, and cell differentiation.

Function[edit | edit source]

PITX2 is a transcription factor, meaning it binds to specific DNA sequences and controls the transcription of genetic information from DNA to mRNA. It plays a crucial role in the development of the eye, heart, and abdominal organs. Mutations in the PITX2 gene can lead to various disorders, including Axenfeld-Rieger syndrome, which affects the development of the eyes and other body parts.

Structure[edit | edit source]

The PITX2 protein consists of a homeodomain, which allows the protein to bind to DNA, and a C-terminal domain, which enables the protein to interact with other proteins. The homeodomain is a 60-amino acid sequence that forms three alpha helices, which fold into a characteristic helix-turn-helix motif.

Clinical significance[edit | edit source]

Mutations in the PITX2 gene are associated with Axenfeld-Rieger syndrome, a disorder that primarily affects the development of the eye, leading to glaucoma and potential vision loss. Other symptoms can include dental abnormalities and mild craniofacial dysmorphism.

In addition, research has suggested a link between PITX2 and the development of atrial fibrillation, a common heart rhythm disorder. Studies have shown that PITX2 may also play a role in the progression of various types of cancer, including breast cancer and lung cancer.