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Concept information

Preferred term

Neurofibromin 1  

Type

  • Topical Descriptor

Entry terms

  • Neurofibromatosis Type 1 Gene Product
  • Neurofibromatosis Type 1 Protein
  • Neurofibromin
  • NF1 GAP Related Protein
  • NF1-GAP-Related Protein
  • NF1 GRP
  • NF 1 Protein
  • NF-1 Protein
  • NF1 Protein

Scope note

  • 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.

History note

  • 2002

In other languages

URI

http://www.yso.fi/onto/mesh/D025542

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