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.
