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Biochemical basis of von Recklinghausen syndrome a.k.a. neurofibromatosis type I??!! HELP?!!? |
Hi, This is caused by a mutation in the gene coding for the protein neurofibromin type 1 (NF1). This mutation is autosomal dominant. In 50% cases the mutation is not inherited but spontaneous. This protein is involved in intracellular signaling, mainly as a suppressor (downregulator) of the Ras oncogene. People with defective NF1 will develop fibromas, which are tumors that can infiltrate nerves and blood vessels. Most of the tumors will be benign but people with this disease are at increased risk of leukemia, nerve sheath and brain cancers. Well for one it's not cancer, nf 2 is the cancer type. I have nf 1, for more info go here. |
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