Related Experiment Video
Updated: Aug 7, 2026
03:53
An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
Published on: October 10, 2025
Neurofibromin: a general outlook
1Departamento de Biologia, UNESP-Universidade Estadual Paulista, Brazil.
Clinical Genetics
|July 4, 2006
Abstract:
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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