Neurofibromin: a general outlook
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Data
2006-07-01
Autores
Trovo-Marqui, A. B.
Tajara, E. H.
Título da Revista
ISSN da Revista
Título de Volume
Editor
Blackwell Publishing
Resumo
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.
Descrição
Palavras-chave
cyclic AMP, mTOR protein, neurofibromatosis type 1, neurofibromin, p21 ras
Como citar
Clinical Genetics. Oxford: Blackwell Publishing, v. 70, n. 1, p. 1-13, 2006.