Alexa Fluor® 568 Anti-Dysferlin 抗体 [JAI-1-49-3]

補足情報

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Dysferlin also known by its alternate names DYSF and CAPN3 is a protein characterized by a mass of approximately 237 kilodaltons. It belongs to the ferlin family and is mainly expressed in skeletal and cardiac muscle tissues. This protein contains multiple C2 domains which are significant for its membrane-trafficking roles. Dysferlin has an important role at the muscle surface particularly in the repair of sarcolemma breaches which helps maintain muscle cell integrity.

Biological function summary

The action of dysferlin impacts several molecular processes critical for muscle function and maintenance often interacting as part of a larger protein complex. It facilitates membrane repair by promoting vesicle fusion events and recruits other proteins to damaged sites. Such action is vital in restoring cellular structure after membrane damage particularly under the mechanical stress experienced in muscle tissues.

Pathways

Dysferlin operates within the calcium-dependent membrane repair pathway and the broader muscular dystrophy pathway. It interacts importantly with proteins such as annexins and actin that aid in membrane repair processes. Dysferlin's role in cellular repair connects it to pathways related to muscle membrane dynamics and stress response further highlighting its function in muscle health and recovery.

Mutations or deficiencies in dysferlin are linked to muscular dystrophies such as limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. These conditions are characterized by progressive muscle weakness and wasting. The link between dysferlin's function and these disorders is also seen in its association with proteins like calpain 3 which also plays a role in muscle maintenance. Understanding the line of interaction between dysferlin and these proteins offers insights into potential therapeutic targets for these conditions.