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dysferlín

  1. Subject h.dysferlín
    Subject h.Dysferlin
    Entry termsFer-1-podobný proteín 1
    Scope note in EnglishA 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.
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