DYSF
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Synonyms:
FER1L1, LGMD2B, MMD1
Species:
Human DYSF (8291), Mouse Dysf (26903), Rat Dysf (312492), sheep DYSF (101109257), Domestic Rabbit DYSF (100342946), domestic guinea pig Dysf (100720513), naked mole-rat Dysf (101715575), Zebrafish dysf (560924), chicken DYSF (425353), cow DYSF (508157) ...More
UniProtKB ID:
Gene ID:
- Human(8291) Summary: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
- Mouse(26903) dysferlin
- Rat(312492) dysferlin
- sheep(101109257) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- Domestic Rabbit(100342946) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- domestic guinea pig(100720513) dysferlin
- naked mole-rat(101715575) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- Zebrafish(560924) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- chicken(425353) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- cow(508157) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- domestic cat(101099290) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- dog(483121) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
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