D025542Level 8
Neurofibromin 1
**Definition:** 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.
**Tree numbers:** - D12.644.360.325.150.500.460 - D12.776.476.325.150.500.460 - D12.776.624.776.610
**Synonyms:** - NF-1 Protein - NF1 GRP - NF1 Protein - Neurofibromatosis Type 1 Gene Product - Neurofibromin - Neurofibromatosis Type 1 Protein - NF1-GAP-Related Protein
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