PITX2B

PITX2B is a specific isoform of the PITX2 gene, which encodes a transcription factor belonging to the paired-like homeodomain family. This gene plays a crucial role in embryonic development, particularly in establishing left-right asymmetry and the development of various organs, including the eyes, heart, and limbs. PITX2B is one of several splice variants produced from the PITX2 gene, and its precise role can differ from other isoforms like PITX2A and PITX2C. Studies have shown that PITX2B is expressed in specific tissues and at particular developmental stages, suggesting a specialized function within the broader PITX2 regulatory network. Mutations or alterations in PITX2 gene expression, including those affecting PITX2B, have been linked to a range of congenital disorders. These include Axenfeld-Rieger syndrome, a group of developmental abnormalities affecting the eyes, teeth, and umbilical region. Research into PITX2B continues to elucidate its specific contributions to developmental processes and its involvement in disease pathogenesis.