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dysferlin


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One of a family of proteins similar to Caenorhabditis elegans ferlin. They are all transmembrane proteins with multiple C2 domains, which are implicated in calcium-dependent membrane fusion events. Dysferlin is required for vesicle fusion during calcium-induced muscle membrane repair and mutations in the dysferlin gene (DYSF) underlie two main muscle diseases: limb girdle muscular dystrophy (LGMD)-2B and Miyoshi myopathy (MM). Other ferlin homologues are found in myoblasts (myoferlin, Fer1L3) and cochlea (otoferlin). See muscular dystrophy.

Subjects: Medicine and Health — Chemistry.


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