Xavière Lornage/Sandbox1
From Proteopedia
Human Merlin FERM Domain
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Introduction
The merlin-1 protein is encoded by the Neurofibromatosis-2(Nf2) gene. Neurofibromatosis type 2 is an inheritable autosomal dominant disorder. Patients develop tumors of the nervous system : meningiomas, schwannomas, neurofibromas.[1] Mutations in the Nf2 gene lead to tumor proliferation as well in humans as in mice. Therefore Merlin-1 is a tumor suppressor protein. To know more about the type of Nf2 mutations and the related deseases you can follow the link that leads you to the Portal to Swiss-Prot diseases and variants the Portal to Swiss-Prot diseases and variants
