NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-.

Cover of Genes and Disease

Genes and Disease [Internet].

Show details


Image NF2.jpg

Neurofibromatosis, type 2, (NF-2) is a rare inherited disorder characterized by the development of benign tumors on both auditory nerves (acoustic neuromas). The disease is also characterized by the development of malignant central nervous system tumors as well.

The NF2 gene has been mapped to chromosome 22 and is thought to be a so-called 'tumor- suppressor gene'. Like other tumor suppressor genes (such as p53 and Rb), the normal function of NF2 is to act as a brake on cell growth and division, ensuring that cells do not divide uncontrollably, as they do in tumors. A mutation in NF2 impairs its function, and accounts for the clinical symptoms observed in neurofibromatosis sufferers. NF-2 is an autosomal dominant genetic trait, meaning it affects both genders equally and that each child of an affected parent has a 50% chance of inheriting the gene.

We are learning more about the function of the NF2 gene through studies of families with neurofibromatosis type 2 and through work in model organisms, particularly mice. The exact molecular function of NF2 in the cell is still unknown, although the protein is similar to the ERM family of cytoskeleton-membrane linker proteins. Further work on the binding partners of NF2 would help to identify potential specific targets for future drug therapies.


Gene sequence

The literature

Related information

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...