Why do mutations in the NF2 gene cause Neurofibromatosis Type II?

Everyone has two copies of the NF2 gene. When this gene is working properly it is responsible for making a protein called merlin. The merlin protein plays an important role in the nervous system because it is made by schwann cells. Schwann cells are a special type of cell that wraps around nerves to help them function; much like insulation around wiring. This is why the merlin protein is sometimes called schwannomin. Merlin also interacts with the body’s support structure for cells called the cytoskeleton and helps keep cells from dividing out of control. This means that the NF2 gene falls into a very specific category called a tumor suppressor genes. There are many other tumor suppressor genes, and whenever these genes are not functioning properly, tumors can develop. Because of its role as a tumor suppressor gene, and because of it is location in nerve cells, it is easy to see why mutations in NF2 can cause a person to develop various kinds of nerve cell tumors which are the hallmark feature of this condition.

Other Questions About Neurofibromatosis, type II

• Why do mutations in the NF2 gene cause Neurofibromatosis Type II?
• Who else in my family should I test for NF2?
• Who else in my family should have testing for Neurofibromatosis Type II?
• Where do I find other people with NF2?
• What specialist doctors should I see with Neurofibromatosis Type II?