The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene.
| Pack Size | 100ul, 1ml, 20ul |
|---|---|
| Applications | ELISA, IHC-P, WB |
| Host Species | Rabbit |
| Ig Isotype | IgG |
| Antibody Type | Monoclonal Antibody |
| Organism Species | Human |
| Concentration | – |
| Product Synonyms | Fukutin |
| Observed Mol Wt | 54kDa |
| Alternative Names | FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4; LGMDR13; Fukutin |
| Immunogen (Antigen) | synthetic peptide |
| Format | Liquid |
| Buffer Formulation | 0.05% BSA, 50% glycerol, PBS with 0.02% sodium azide, pH7.3 |
| Reactivity | Human, Mouse, Rat |
| Uniprot ID | 2218 |
| Gene ID | O75072 |
| Potency (Clone Number) | ARC2559 |
| 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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