Western Blot: 1/500 - 1/1000. Immunofluorescence: 1/50 - 1/200. Other applications not tested. Optimal dilutions are dependent on conditions and should be determined by the user.
Neurofibromatosis type 2 (NF2) is a dominantly inherited disorder characterized by the occurance of bilateral vestibular schwannomas and other central nervous system tumors, including multiple meningiomas. NF2 occurs in about 1 of 40,000 live births. The NF2 gene is highly penetrant, NF2-affected individuals have a 95 % chance of developing bilateral vestibular schwannomas. NF2 is distinct from NF1, which is characterized by an incidence of 1 in 4000, maps to chromosome 17 and encodes a protein designated neurofibromin, which is a large protein with a GAP domain. Genetic linkage studies of both sporadic and familial tumors suggest that NF2 is caused by inactivation of a tumor suppressor gene that maps on chromosome 22q12 and encodes a 595 amino acid protein whose function appears to be mediated by interaction with the cytoskeleton.Synonyms: Moesin-ezrin-radixin-like protein, NF2, Neurofibromin-2, SCH, Schwannomerlin, Schwannomerlin, Schwannomin, Schwannomin