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Dysferlin MeSH Descriptor Data 2023


MeSH Heading
Dysferlin
Tree Number(s)
D12.776.210.500.248
D12.776.543.225
Unique ID
D000073939
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D000073939
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.
Entry Term(s)
Fer-1-like Protein 1
Registry Number
0
Previous Indexing
Membrane Proteins (1998-2017)
Muscle Proteins (1998-2017)
Public MeSH Note
2018
History Note
2018
Date Established
2018/01/01
Date of Entry
2017/07/11
Revision Date
2017/02/27
Dysferlin Preferred
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