Expresión de búsqueda:
NEUROFIBROMIN 1
Descriptores Encontrados:
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DeCS
Descriptor
Inglés
:
Neurofibromin 1
Descriptor
Español
:
neurofibromina 1
Descriptor
Portugués
:
Neurofibromina 1
Sinónimos
Inglés
:
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
Categoría:
D12.644.360.325.150.500.460
D12.776.476.325.150.500.460
D12.776.624.776.610
Definición
Inglés
:
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.
Relacionados
Inglés
:
Genes, Neurofibromatosis 1
Neurofibromatosis 1
Nota Histórica
Inglés
:
2002
Calificadores Permitidos
Inglés
:
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
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
ST
standards
SD
supply & distribution
TU
therapeutic use
TO
toxicity
UL
ultrastructure
UR
urine
Número del Registro:
36217
Identificador Único:
D025542
Ocurrencia en la BVS
:
Similar:
DeCS