However, many individuals with NF2 have mosaicism, which can only be detected by testing ... It is known that the gene product of NF1, neurofibromin, functions as a regulator of a protein called RAS.

Neurofibromatosis type 2 is caused by a change in the NF2 gene located on chromosome 22. This gene encodes a protein known as merlin. Mutations in the NF2 gene disrupt the function of merlin, which is ...