Search on: NEUROFIBROMIN 1 
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Descriptor English:   Neurofibromin 1 
Descriptor Spanish:   Neurofibromina 1 
Descriptor Portuguese:   Neurofibromina 1 
Synonyms English:   Neurofibromatosis Type 1 Protein  
Tree Number:   D12.644.360.325.150.500.460
D12.776.402.150.500.460
D12.776.476.325.150.500.460
D12.776.624.776.610
Definition English:   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. 
See Related English:   Genes, Neurofibromatosis 1
Neurofibromatosis 1
 
History Note English:   2002 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification CT contraindications
DF deficiency DU diagnostic use
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
SE secretion ST standards
SD supply & distribution TU therapeutic use
TO toxicity UL ultrastructure
UR urine  
Record Number:   36217 
Unique Identifier:   D025542 

Occurrence in VHL: 		 

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