Product Datasheet  
DYSF Antibody  
Catalog Number: 43455  
Technical:tech@swbio.com  
Information:info@swbio.com  
Description  
  • host_species:  
  • Rabbit
  • Amount:  
  • 100μgμg
  • Swiss-Prot No.:  
  • Swiss-Prot#: O75923
    Gene ID: 8291
  • Form of Antibody:  
  • Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
  • Storage:  
  • Store at -20˚C
  • Immunogen:  
  • Synthetic peptide of human DYSF
  • reactivity:  
  • Hu Ms
  • appl_detail:  
  • Immunohistochemistry: 1:20-1:100

  • other_names:  
  • MMD1; FER1L1; LGMD2B
  • Purification:  
  • Antigen affinity purification.
  • Specificity:  
  • The antibody detects endogenous levels of total DYSF protein.
  • Applications:  
  • IHC
  • Background:  
  • 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.




 
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