BackgroundThe 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.
DescriptionDysferlin Monoclonal Antibody. Unconjugated. Raised in: Rabbit.
FormulationBuffer: PBS containing 50% glycerol and 0.05% BSA, preserved with proclin300 or sodium azide, pH 7.3.
SpecificityHuman
IsotypeIgG
Uniprot IDO75923
PurificationAffinity Purified
ImmunogenSynthetic peptide. Please contact EpigenTek for more information.
StorageStore at -20°C. Avoid freeze / thaw cycles.
Alternative NamesMMD1; FER1L1; LGMD2B; LGMDR2; Dysferlin (Romeo)
ApplicationWB, IHC-P, ELISA; Recommended dilution: WB, 1:500 - 1:2000; IHC-P, 1:100 - 1:500; ELISA, Recommended starting concentration is 1 µg/mL. Please optimize the concentration based on your specific assay requirements.