Neurofibromin: a general outlook
Loading...
Files
External sources
External sources
Date
Authors
Advisor
Coadvisor
Graduate program
Undergraduate course
Journal Title
Journal ISSN
Volume Title
Publisher
Blackwell Publishing
Type
Article
Access right
Acesso restrito
Files
External sources
External sources
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.
Description
Keywords
cyclic AMP, mTOR protein, neurofibromatosis type 1, neurofibromin, p21 ras
Language
English
Citation
Clinical Genetics. Oxford: Blackwell Publishing, v. 70, n. 1, p. 1-13, 2006.
