Dysferlin
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.
Year introduced: 2018
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Subheadings:
Tree Number(s): D12.776.210.500.248, D12.776.543.225
MeSH Unique ID: D000073939
Entry Terms:
- Fer-1-like Protein 1
- Fer 1 like Protein 1
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