Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined.
| Pack Size | 100ul, 1ml, 20ul |
|---|---|
| Applications | ELISA, WB |
| Host Species | Rabbit |
| Ig Isotype | IgG |
| Antibody Type | Polyclonal Antibody |
| Organism Species | Human |
| Concentration | – |
| Product Synonyms | [KO Validated] MYOF |
| Observed Mol Wt | 235kDa |
| Alternative Names | FER1L3, HAE7, OF |
| Immunogen (Antigen) | Recombinant protein |
| Format | Liquid |
| Buffer Formulation | 50% glycerol, PBS with 0.01% thimerosal, pH7.3 |
| Reactivity | Human, Mouse |
| Uniprot ID | 26509 |
| Gene ID | Q9NZM1 |
| 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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