What is SMAD4 mutation?
What is SMAD4 mutation?
If you have a mutation in the SMAD4 gene, this means you have a condition called Juvenile Polyposis syndrome (JPS). JPS increases your risk of developing polyps (growths of tissue) in your colon or rectum. These polyps can lead to an increased risk for colorectal (colon and rectal) cancer.
What is the function of SMAD4?
The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus.
What chromosome is SMAD4 on?
Chromosome 18
Mothers against decapentaplegic homolog 4
| Gene location (Human) | ||
|---|---|---|
| Chr. | Chromosome 18 (human) | |
| Band | 18q21.2 | 51,028,394 bp |
| 51,085,045 bp |
Is SMAD4 an oncogene?
These results indicate that SMAD4 in HCC cells support migration and in conjunction with the colony formation data support the notion of a non-canonical pro-oncogenic function of SMAD4 in HCC.
What is BMPR1A gene?
The BMPR1A gene provides instructions for making a protein called bone morphogenetic protein receptor 1A. This receptor protein has a specific site into which certain other proteins, called ligands, fit like keys into locks.
What does BRCA2 stand for?
BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent.
Is SMAD4 a tumor suppressor or oncogene?
SMAD4 (DPC4) is a tumor suppressor gene. It is located at chromosome 18q21. 1 and a member of the SMAD family. Which mediates the TGF-β signaling pathway, thereby controlling the growth of epithelial cells.
Is CDKN2A a tumor suppressor gene?
Normal Function. The CDKN2A gene provides instructions for making several proteins. The most well-studied are the p16(INK4A) and the p14(ARF) proteins. Both function as tumor suppressors, which means they keep cells from growing and dividing too rapidly or in an uncontrolled way.
Is STK11 a tumor suppressor gene?
The STK11 gene (also called LKB1) provides instructions for making an enzyme called serine/threonine kinase 11. This enzyme is a tumor suppressor, which means that it helps keep cells from growing and dividing too fast or in an uncontrolled way.
