Dysferlin

**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.

**Tree numbers:** - D12.776.210.500.248 - D12.776.543.225

**Synonyms:** - Fer-1-like Protein 1