Concept information
Término preferido
Dysferlin
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- Fer-1-like Protein 1
En otras lenguas
-
francés
-
Protéine-1 semblable à Fer-1
-
Protéine-1 similaire à Fer-1
URI
http://data.loterre.fr/ark:/67375/JVR-J77GZVJ9-Q
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