MeSH definition : 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.;
MeSH synonym : Fer-1-like Protein 1; Fer 1 like Protein 1;
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.