SALL4

SALL4 is a gene that plays a crucial role in embryonic development. It encodes a transcription factor, meaning it helps regulate the expression of other genes. This protein is essential for the development of several organs and tissues, including the heart, limbs, and gonads. Mutations in the SALL4 gene can lead to a range of congenital abnormalities, collectively known as SALL4-related developmental disorders. These disorders can manifest with varying severity and can include features such as Duane-radial ray syndrome, which involves abnormalities of the eyes and arms, and Okihiro syndrome, characterized by limb malformations and heart defects. SALL4 is also implicated in the development of certain types of cancer, particularly germ cell tumors. Its expression is often altered in these tumors, suggesting a role in their formation and progression. Research into SALL4 continues to shed light on its complex functions in both normal development and disease.