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Neurofibromin: a general outlook


Eloiza Helena Tajara, Departamento de Biologia Molecular, Faculdade de Medicina/FAMERP, Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, Cep: 15090-000, São José do Rio Preto, São Paulo, Brazil.
Tel.: +55 17 3201 5737;
fax: +55 17 3234 6407;


Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1, located on chromosome 17, at q11.2, and has different biochemical functions, including association to microtubules and participation in several signaling pathways. Alterations in this protein are responsible for a phacomatosis named neurofibromatosis type 1.