Chemicals and Drugs [D] » Amino Acids, Peptides, and Proteins [D12] » Proteins » Contractile Proteins » Muscle Proteins » Dysferlin
Chemicals and Drugs [D] » Amino Acids, Peptides, and Proteins [D12] » Proteins » Membrane Proteins » Dysferlin
Description
A membrane protein that contains multiple C2 DOMAINS. It is highly expressed in skeletal muscle and functions as a calcium ion sensor in SYNAPTIC VESICLE-PLASMA MEMBRANE fusion, as well as in SARCOLEMMA repair following mechanical stress. Mutations in the dysferlin (DYSF) gene are associated with several hereditary MUSCULAR DYSTROPHIES. MeSH
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