PIK3CA is a gene that provides instructions for making a protein called p110α. This protein is part of the PI3K family, which plays a central role in controlling how cells grow, divide, and survive. When PIK3CA is working normally, it helps maintain balance in these processes. When it is mutated, the pathway can become overactive …
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ATRX stands for alpha-thalassemia/mental retardation X-linked. The ATRX gene provides instructions for producing the ATRX protein, which plays a crucial role in the packaging and repair of DNA within our cells. This protein helps control which genes are turned on or off, supports DNA repair, and maintains the ends of chromosomes, known as telomeres. ATRX …
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NTRK refers to a family of genes—NTRK1, NTRK2, and NTRK3—that provide instructions for making proteins called Trk-A, Trk-B, and Trk-C. These proteins are located on the cell surface and play a crucial role in regulating essential processes, such as cell growth and survival. In early development, they help nerve cells grow and form connections. In …
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PTEN (phosphatase and tensin homolog) is a gene that gives instructions to make the PTEN protein. This protein acts as a tumor suppressor, meaning it helps stop cells from growing and dividing too quickly. When PTEN is lost or changed, cells may grow out of control and form tumors. What does the PTEN protein do? …
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NRAS is a gene that provides instructions for making a protein involved in cell signaling, specifically in controlling cell growth and division. Like other genes in the RAS family, NRAS plays a role in regulating normal cell function. However, when mutations occur in the NRAS gene, the protein it encodes can become overactive, leading to …
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