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Descriptor English: Neurofibromin 1
Descriptor Spanish: Neurofibromina 1
Descriptor neurofibromina 1
Entry term(s) proteína de la neurofibromatosis de tipo 1
Scope note: Proteína que se encuentra muy abundantemente en el sistema nervioso. Los defectos o deficiencias en esta proteína se asocian con la NEUROFIBROMATOSIS 1, síndrome de Watson y síndrome LEOPARD. Las mutaciones en el gen (GEN DE LA NEUROFIBROMATOSIS 1) afectan a dos funciones conocidas: regulación de la ras-GTPasa y supresión tumoral.
Descriptor Portuguese: Neurofibromina 1
Descriptor French: Neurofibromine-1
Entry term(s): NF 1 Protein
NF-1 Protein
NF1 GAP Related Protein
NF1 GRP
NF1 Protein
NF1-GAP-Related Protein
Neurofibromatosis Type 1 Gene Product
Neurofibromatosis Type 1 Protein
Neurofibromin
Tree number(s): D12.644.360.325.150.500.460
D12.776.476.325.150.500.460
D12.776.624.776.610
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D025542
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.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Previous Indexing: Nerve Tissue Proteins (1995-2001)
Proteins (1990-1999)
Public MeSH Note: 2002
History Note: 2002
Related: Genes, Neurofibromatosis 1 MeSH
Neurofibromatosis 1 MeSH
DeCS ID: 36217
Unique ID: D025542
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2002/01/01
Date of Entry: 2001/07/25
Revision Date: 2015/11/24
Neurofibromin 1 - Preferred
Concept UI M0179586
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.
Preferred term Neurofibromin 1
Entry term(s) NF 1 Protein
NF-1 Protein
NF1 GAP Related Protein
NF1 GRP
NF1 Protein
NF1-GAP-Related Protein
Neurofibromatosis Type 1 Gene Product
Neurofibromatosis Type 1 Protein
Neurofibromin



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