Neurofibromin

Medical Condition:
Neurofibromin

A protein found most abundantly in the nervous system. Defects or deficiencies in this protein are associated with NEUROFIBROMATISIS 1, Watson syndrome, and LEOPARD syndrome. Mutations in the gene (GENE, NEUROFIBROMATOSIS 1) affect two known functions: regulation of ras-GTPase and tumor suppression.