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skos:definition |
CSP: nerve tissue protein that shows similarity to GTPase activating protein.,MSH: A protein found most abundantly in the nervous system. Defects or deficiencies in this protein are associated with NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome. Mutations in the gene (GENE, NEUROFIBROMATOSIS 1) affect two known functions: regulation of ras-GTPase and tumor suppression.,NCI: 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)
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