Dysferlin

Dysferlin is a protein that in humans is encoded by the DYSF gene. Dysferlin is involved in muscle repair and is found in the sarcolemma of muscle cells. Mutations in this gene are associated with limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy, types of muscular dystrophy characterized by progressive weakness and wasting of the skeletal muscles.

Function

Dysferlin is a type-II transmembrane protein of the ferlin family, which is involved in membrane repair of muscle cells. It is thought to be involved in the process of membrane fusion and fission through its C2 domains, which can bind calcium ions and phospholipids.

Clinical significance

Mutations in the DYSF gene are associated with two types of autosomal recessive muscular dystrophy: limb girdle muscular dystrophy type 2B and Miyoshi myopathy. These conditions are characterized by progressive muscle weakness and atrophy, with onset typically in the late teens or early adulthood. In some cases, individuals with mutations in the DYSF gene may also develop a condition called distal myopathy, which affects the muscles of the hands and feet.

See also

• Limb girdle muscular dystrophy
• Miyoshi myopathy
• Distal myopathy

References

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