DYSF
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Synonyms:
FER1L1, LGMD2B, MMD1
Species:
Human DYSF (8291), Mouse Dysf (26903), Rat Dysf (312492), dog DYSF (483121), domestic guinea pig Dysf (100720513), chicken DYSF (425353), Zebrafish dysf (560924), naked mole-rat Dysf (101715575), cow DYSF (508157), sheep DYSF (101109257) ...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
- dog(483121) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- domestic guinea pig(100720513) dysferlin
- chicken(425353) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- Zebrafish(560924) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- naked mole-rat(101715575) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- cow(508157) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- sheep(101109257) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- Domestic Rabbit(100342946) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- domestic cat(101099290) dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
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Antibodies
Product Number
Description
Species Reactivity
Application
Anti-Dysferlin/DYSF Antibody, clone 10H3.1, clone 10H3.1, from mouse,
Species Reactivity
human
Application
immunohistochemistry
western blot
western blot
Anti-Dysferlin, antibody produced in rabbit, affinity isolated antibody,
Species Reactivity
human, mouse
Application
ELISA
western blot
western blot
Anti-DYSF antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunohistochemistry
Anti-DYSF antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunofluorescence
immunohistochemistry
immunohistochemistry
Anti-Dysferlin (Romeo) antibody produced in rabbit, ,
Species Reactivity
human, mouse, rat
Application
immunohistochemistry
western blot
western blot