NF1
Neurofibromin 1 (NF1) NF1 is a tumor suppressor gene located on chromosome 17 with 61 exons that serves the role of producing a specific type of protein known as neurofibromin. The neurofibromin protein can be found in various cells, such as nerve cells and oligodendrocytes. This protein is tasked with the important job of regulating cell growth, and making sure cells are multiplying at a normal pace. It does this by directly regulating a different protein known as RAS , which accelerates and promotes cell division and growth when turned on. Related Diseases Due to NF1’s important role as a tumor suppressor gene, a mutation can cause serious problems and allow several diseases to develop. One example of this is Neurofibromatosis Type 1, a disease that can be induced from over 1,000 different NF1 mutations. The majority of NF1 mutations originate from a missense mutation , and result in a malfunctioning, shortened form of neurofibromin that lacks the capabilities to fully suppress