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Description
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
Specifications
Specifications
| Antigen | DYSF |
| Applications | Immunohistochemistry (PFA fixed) |
| Classification | Polyclonal |
| Concentration | Lot specific |
| Conjugate | Unconjugated |
| Description | Rabbit polyclonal antibody raised against synthetic peptide of DYSF. |
| Dilution | Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) (Formalin/PFA-fixed paraffin-embedded sections) (1:50) The optimal working dilution should be determined by the end user. |
| Formulation | In 10mM PBS, pH 7.4 (1% BSA, 0.09% sodium azide) |
| Gene | DYSF |
| Gene Alias | FER1L1/FLJ00175/FLJ90168/LGMD2B |
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