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.
Pack Size | 100ul, 1ml, 20ul |
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Applications | ELISA, IHC-P, WB |
Host Species | Rabbit |
Ig Isotype | IgG |
Antibody Type | Monoclonal Antibody |
Organism Species | Human |
Product Synonyms | Dysferlin |
Observed Mol Wt | 237kDa |
Alternative Names | MMD1; FER1L1; LGMD2B; LGMDR2; Dysferlin (Romeo) |
Immunogen (Antigen) | synthetic peptide |
Format | Liquid |
Buffer Formulation | 0.05% BSA, 50% glycerol, PBS with 0.02% sodium azide, pH7.3 |
Reactivity | Human |
Uniprot ID | 8291 |
Gene ID | O75923 |
Potency (Clone Number) | ARC2178 |
Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
Usage | For Research Use Only. Not for diagnostics or human use. |
Shelf Life | 12 months at time of shipping |
Shipping | Shipped in Dry Ice at -20 Degree Celsius |
Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
Research Areas | Cell Biology, Developmental Biology, Immunology |
KD/KO Validated | KD Validated |
Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |
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