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NEUROFIBROMIN
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DeCS
Descriptor
English
:
Neurofibromin 1
Descriptor
Spanish
:
Neurofibromina 1
Descriptor
Portuguese
:
Neurofibromina 1
Synonyms
English
:
NF-1 Protein
NF1 GRP
NF1 Protein
NF1-GAP-Related Protein
Neurofibromatosis Type 1 Gene Product
Neurofibromin
NF 1 Protein
NF1 GAP Related Protein
Neurofibromatosis Type 1 Protein
Tree Number:
D12.644.360.325.150.500.460
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
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
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS