SMAD4

Description

The SMAD4 gene, also known as DPC4, plays a vital role in cellular signaling pathways, particularly the transforming growth factor beta (TGF-β) pathway. This pathway is essential for regulating cell growth, differentiation, and apoptosis. SMAD4 acts as a central mediator, interacting with other SMAD proteins to transmit signals from TGF-β receptors to the nucleus, where they control gene expression. Mutations in the SMAD4 gene can disrupt this signaling process, leading to uncontrolled cell growth and development.

Associated Diseases

• Pancreatic cancer
• Colorectal cancer
• Breast cancer
• Lung cancer
• Juvenile polyposis syndrome
• Myelodysplastic syndromes

Did you know?

SMAD4 gene mutations are found in up to 50% of pancreatic cancer cases, making it a significant contributor to this aggressive disease.