MVK Rabbit Polyclonal Antibody
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Other products for "MVK"
Specifications
Product Data | |
Applications | IHC, WB |
Recommended Dilution | WB: 200-1000 WB positive control: Raji cells IHC: 50-200 Positive control: Human thyroid cancer Predicted cell location: Cytoplasm |
Reactivities | Human, Mouse, Rat |
Host | Rabbit |
Isotype | IgG |
Clonality | Polyclonal |
Immunogen | Fusion protein of human MVK |
Formulation | pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Concentration | lot specific |
Purification | Antigen affinity purification |
Conjugation | Unconjugated |
Storage | Store at -20°C. |
Stability | 1 year |
Predicted Protein Size | 42 kDa |
Database Link | |
Background | 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. |
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