What is dysferlin?

Dysferlin is a protein made from the dysferlin gene that, when mutated or absent, causes both Limb-Girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. At the time of dysferlin's discovery (mid 1998), it had no common features with any other known human proteins, but was most similar to a protein in the nematode worm C. elegans. The C. elegans protein is necessary for reproduction and was named fer-1 for "fertile." (The lack of dysferlin in humans, however, does not appear to cause any reproductive problems.) The name of the human protein, "dysferlin," was coined by the discoverers to acknowledge its role in muscular dystrophy and its similarity to the C. elegans gene. Since the discovery of dysferlin, five closely related human proteins have been characterized.