p-Neurofibromin Background Information
Neurofibromatosis type 1 (NF1), or von Reckinghausen neurofibromatosis, is one of the most common autosomal dominant disorders in humans. Early linkage analysis mapped the NF1 gene to chromosome 17. The predicted NF1 transcript encodes the 2,818 amino acid protein Neurofibromin, also designated NF1-GAP-related protein (NF1GRP). By sequence analysis, similarity has been demonstrated within a small region of Neurofibromin and members of the Ras GAP gene family. Functionally, Neurofibromin has been shown by biochemical analysis involving RAS-GAP hydrolysis and functional complementation in yeast to further resemble GAP protein. The Neurofibromin protein is expressed at relatively constant levels in a broad range of cell lines and tissues including brain, lung, liver, kidney, spleen, muscle and colon. Although little is known regarding the function of Neurofibromin, the homology with the catalytic domain of proteins with GTPase activity suggests that Neurofibromin may also interact in vivo with Ras proteins. Human Neurofibromin is subject to phosphorylation at Ser 2515.
