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Concept information

Preferred term

Neurofibromin 1  

Type

  • mesh:Descriptor

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.

Entry terms

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

In other languages

  • French

  • Neurofibromine
  • NF1 GRP
  • Produit du gène de la neurofibromatose de type 1
  • Protéine de la neurofibromatose de type 1
  • Protéine de la neurofibromatose de type I
  • Protéine NF-1
  • Protéine NF1
  • Protéine NF1 apparentée aux protéines GAP

URI

http://data.loterre.fr/ark:/67375/JVR-VXBV1NCK-G

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RDF/XML TURTLE JSON-LD Created 7/25/01, last modified 11/24/15