DYSF
Dysferlin (also known as DYSF) is a protein that in humans is encoded by the DYSF gene. Dysferlin is involved in muscle repair and mutations in this gene can lead to various forms of muscular dystrophy.
Function[edit | edit source]
Dysferlin is a type-2 transmembrane protein and is involved in calcium-dependent membrane repair in muscle cells. It is thought to be involved in the process of membrane resealing in muscle cells, which undergo frequent mechanical stress.
Clinical significance[edit | edit source]
Mutations in the DYSF gene are associated with several forms of muscular dystrophy, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). These conditions are characterized by progressive weakness and wasting of the skeletal muscles. They are typically inherited in an autosomal recessive manner.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
