Sandbox Reserved 705: Difference between revisions
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The merlin-1 protein is encoded by the Neurofibromatosis-2(Nf2) gene. Neurofibromatosis type 2 is an inheritable autosomal dominant disorder. | 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.<ref>PMID:3125435</ref> | Patients develop tumors of the nervous system : meningiomas, schwannomas, neurofibromas.<ref>PMID:3125435</ref> | ||
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[http://swissvar.expasy.org/cgi-bin/swissvar/result?global_textfield=merlin | 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 [http://swissvar.expasy.org/cgi-bin/swissvar/result?global_textfield=merlin the Portal to Swiss-Prot diseases and variants ] | ||
