Neurofibromin

Definition 1

The 250 kD neurofibromin product, encoded by the tumor suppressor NF1 gene, is thought to restrict cell proliferation by functioning as a RAS-specific GTPase-activating protein. NF1 contains a GAP-related domain that down regulates p21(RAS) by stimulating its GTPase activity. NF1 protein is found in all tissues in a large complex and may be associated with the intermediate filament cytoskeleton. NF1 gene expression is most abundant in the adult nervous system; neurofibromin may act as a negative regulator of neurotrophin-mediated signaling. NF1 mutations are associated with neurofibromatosis type I. (from OMIM 162200 and NCI) (NCI Thesaurus)

Definition 2

nerve tissue protein that shows similarity to GTPase activating protein. (NIH CRISP Thesaurus)

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