Dysferlin

Dysferlin

Engelsk definition

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.

Svenska synonymer

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Engelska synonymer

Fer-1-like Protein 1 Fer 1 like Protein 1