Dysferlin
Protein encoded by the DYSF gene in humans / From Wikipedia, the free encyclopedia
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Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene.[5] Dysferlin is linked with plasma membrane repair.,[6] stabilization of calcium signaling[7][8][9] and the development of the T-tubule system of the muscle[10] A defect in the DYSF gene, located on chromosome 2p12-14, results in several types of muscular dystrophy; including Miyoshi myopathy (MM), Limb-girdle muscular dystrophy type 2B (LGMD2B) and Distal Myopathy (DM). A reduction or absence of dysferlin, termed dysferlinopathy, usually becomes apparent in the third or fourth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles.[11] Pathogenic mutations leading to dysferlinopathy can occur throughout the DYSF gene.