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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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