Pesquisa sobre: MFN=57102 
Descritores Encontrados: 1
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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:
 
MEDLINE    

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