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MedlinePlus Health Topics
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C1414209
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1414209
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|---|---|
| Preferred Name | dysferlin |
| Definitions |
The DYSF gene provides instructions for making a protein called dysferlin. This protein is found in the thin membrane called the sarcolemma that surrounds muscle fibers. Dysferlin is thought to aid in repairing the sarcolemma when it becomes damaged or torn due to muscle strain. Researchers suggest that dysferlin may also be involved in the formation of new muscle fibers (regeneration) and in inflammation, but little is known about these functions.
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| Synonyms |
DYSF_HUMAN
DYSF
FLJ00175
fer-1-like protein 1
dystrophy-associated fer-1-like 1
FLJ90168
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
FER1L1
LGMD2B
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The DYSF gene provides instructions for making a protein called dysferlin. This protein is found in the thin membrane called the sarcolemma that surrounds muscle fibers. Dysferlin is thought to aid in repairing the sarcolemma when it becomes damaged or torn due to muscle strain. Researchers suggest that dysferlin may also be involved in the formation of new muscle fibers (regeneration) and in inflammation, but little is known about these functions. |
|---|---|
| altLabel |
DYSF_HUMAN
DYSF
FLJ00175
fer-1-like protein 1
dystrophy-associated fer-1-like 1
FLJ90168
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
FER1L1
LGMD2B
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| prefLabel | dysferlin
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| DB XR ID | NCBI Gene:8291~OMIM:603009~OMIM:606768
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| Has associated condition | |
| type | |
| tui | T028
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| notation | C1414209
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| Semantic type UMLS property | |
| cui | C1414209
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