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MFN=57102
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DeCS
Descritor
Inglês
:
Dysferlin
Descritor
Espanhol
:
Disferlina
Descritor
Português
:
Disferlina
Sinônimos
Inglês
:
Fer-1-like Protein 1
Fer 1 like Protein 1
Categoria:
D12.776.210.500.248
D12.776.543.225
Definição
Inglês
:
A membrane protein that contains multiple
C2 DOMAINS
. It is highly expressed in skeletal muscle and functions as a
calcium
ion sensor in SYNAPTIC VESICLE-PLASMA
MEMBRANE fusion
, as well as in
SARCOLEMMA
repair following mechanical stress.
Mutations
in the
dysferlin
(DYSF) gene are associated with several hereditary
MUSCULAR DYSTROPHIES.
Nota Histórica
Inglês
:
2018
Qualificadores Permitidos
Inglês
:
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
SE
secretion
ST
standards
SD
supply & distribution
TU
therapeutic use
TO
toxicity
UL
ultrastructure
UR
urine
Número do Registro:
57102
Identificador Único:
D000073939
Ocorrência na BVS
:
Similar:
DeCS
CID-10
LILACS