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neurofibromín 1

  1. Record numberd025542
    Date06.06.2025
    TypeM - MESH
    Topical termneurofibromín 1
    Other termEnglish (Pseudonym) Neurofibromatosis Type 1 Protein
    Slovak (Pseudonym) proteín neurofibromatózy 1
    Slovak (Pseudonym) proteín neurofibromatózy typu 1
    See also(Later heading) neurofibromatóza 1
    (Later heading) gény neurofibromatózy 1
    (Skutočné meno) neurofibromatóza 1
    (Skutočné meno) gény neurofibromatózy 1
    UDCD12.644.360.325.150.500.460D12.776.476.325.150.500.460D12.776.624.776.610
    NoteA 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.
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