This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants.
| Pack Size | 100ul, 1ml, 20ul |
|---|---|
| Applications | ELISA, WB |
| Host Species | Rabbit |
| Ig Isotype | IgG |
| Antibody Type | Monoclonal Antibody |
| Organism Species | Human |
| Concentration | – |
| Product Synonyms | MVK |
| Observed Mol Wt | 42kDa |
| Alternative Names | MK; LRBP; MVLK; POROK3; MVK |
| 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 | 4598 |
| Gene ID | Q03426 |
| Potency (Clone Number) | ARC2871 |
| 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 | Cancer; Cell Biology; Immunology |
| 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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