PITX2 : paired like homeodomain 2

Description

The PITX2 (paired like homeodomain 2) is a protein-coding gene located on chromosome 4.

The PITX2 gene provides instructions for making a protein that binds to specific regions of DNA and controls the activity of other genes. This protein is called a transcription factor. PITX2 belongs to a family of homeobox genes, crucial for early embryonic development, influencing the formation of many body parts. The PITX2 protein is essential for early development, particularly in shaping structures in the front part of the eye, including the iris, lens, and cornea. Research suggests PITX2 also has functions in the adult eye, aiding cells in responding to oxidative stress. It also plays a role in the normal development of teeth, heart, and abdominal organs.

PITX2 contributes to myoblast differentiation. In its unphosphorylated state, it interacts with an ELAVL1 complex, stabilizing cyclin mRNA and promoting cell proliferation. However, phosphorylation by AKT2 disrupts this interaction, destabilizing CCND1 mRNA and driving the differentiation process.

PITX2 is also known as ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing