SUBCELLULAR LOCALIZATION
| plasma membrane
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| intracellular
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| intracellular,cytoplasm,organelle,membrane
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| intracellular,cytoplasm,organelle,endoplasmic reticulum
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| intracellular,cytoplasm,organelle,Golgi
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| intracellular,cytoplasm,cytosolic,vesicle
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| text
| in normal skeletal muscle, dysferlin and AHNAK colocalize at the sarcolemmal membrane and T-tubules  |
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abundant dysferlin expression in the Golgi apparatus, around the perinuclear region and to a lesser extent in the nucleus of endothelial cells |
| basic FUNCTION
| involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events |
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involved in membrane regeneration and repair (first member of the membrane repair machinery in skeletal muscle) |
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implicated in calcium-dependent membrane repair |
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participates in the recruitment and stabilization of AHNAK to the sarcolemma |
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involved in efficient and active membrane repair system to overcome the rigours of frequent contraction of the muscles |
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is necessary for correct T-tubule formation, and dysferlin-deficient skeletal muscle is characterized by abnormally configured T-tubules |
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role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis |
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ferlins are calcium-sensing proteins and are candidate mediators of vesicle-plasma membrane fusion during myoblast fusion |
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membrane-anchored protein known to facilitate membrane repair in skeletal muscles following mechanical injury |
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not only mediates membrane repair but also trafficking of client proteins, ultimately, help bridging dysferlinopathies to aberrant membrane signaling |
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indirectly regulates the membrane expression of proteins by trafficking the lipid patches/vesicles that contain membrane proteins, rather than binding directly the cargo proteins |
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multi-C2 domain transmembrane protein involved in skeletal muscle membrane repair, but also in myogenesis, cellular adhesion and intercellular calcium signaling |
