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Clin Genet. 2006 Jul;70(1):1-13.

Neurofibromin: a general outlook.

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Departamento de Biologia, UNESP-Universidade Estadual Paulista, Brazil.


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.

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