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  Domain Name: RasGAP_Neurofibromin
Ras-GTPase Activating Domain of neurofibromin. Neurofibromin is the product of the neurofibromatosis type 1 gene (NF1) and shares a region of similarity with catalytic domain of the mammalian p120RasGAP protein and an extended similarity with the Saccharomyces cerevisiae RasGAP proteins Ira1 and Ira2. Neurofibromin has been shown to function as a GAP (GTPase-activating protein) which inhibits low molecular weight G proteins such as Ras by stimulating their intrinsic GTPase activity. NF1 is a common genetic disorder characterized by various symptoms ranging from predisposition for the development of tumors to learning disability or mental retardation. Loss of neurofibromin activity can be correlated to the increase in Ras-GTP concentration in neurofibromas of NF1 of patients, supporting the notion that unregulated Ras signaling may contribute to their development.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 15
Total Disease Mutations Found: 9
This domain occurred 14 times on human genes (29 proteins).



  LEUKEMIA, JUVENILE MYELOMONOCYTIC
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
  NEUROFIBROMATOSIS, TYPE I


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
putative RAS interface

















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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