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Biallelic inactivation of the NF2 gene has been established as the principal underlying genetic event in patients with sporadic and syndrome-associated vestibular schwannoma (VS). Two independent teams contemporaneously identified the NF2 gene located on chromosome 22 at 22q12.2 in 1993, which codes for the tumor suppressor protein Merlin, also called schwannomin

The NF2 gene provides instructions for the production of a protein called merlin, also known as schwannomin 1) 2).

Rouleau GA, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 1993;363:515–21.
Trofatter JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993;72:791–800.
1993.txt · Last modified: 2018/09/04 14:15 by administrador