Neurofibromatosis 2: loss of merlin's protective spell.
Schwannomas and meningiomas occur as multiple tumors in sufferers of neurofibromatosis 2 (NF2) and as solitary tumors in the general population due to the inactivation of a gene at chromosome 22q12. In 1993, a location cloning approach revealed this tumor suppressor, dubbed merlin, as a novel member of a family of proteins that link elements of the cytoskeleton and the cell membrane. Subsequent investigations have confirmed merlin's role in tumor formation, but have yet to reveal its mechanism of action.
Gusella
J F
JF
Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown, USA.
Ramesh
V
V
MacCollin
M
M
Jacoby
L B
LB
D000818:Animals; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism*; D009154:Mutation; D016518:Neurofibromatosis 2 / Q000235:genetics*; D025581:Neurofibromin 2
D008565:Membrane Proteins; D025581:Neurofibromin 2