Concept information
Preferred term
Dysferlin
Type
-
Topical Descriptor
Broader concept
Entry terms
- Fer 1 like Protein 1
- Fer-1-like Protein 1
Scope note
- 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.
History note
- 2018
In other languages
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D000073939
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