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Description
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. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq
Specifications
Specifications
| Antigen | MVK |
| Applications | Immunofluorescence, Immunohistochemistry (PFA fixed), Western Blot |
| Classification | Polyclonal |
| Concentration | 1 mg/mL |
| Conjugate | Unconjugated |
| Description | Rabbit polyclonal antibody raised against synthetic peptide of MVK. |
| Dilution | Western Blot (1:500-1:1000) Immunohistochemistry (1:50-1:200) Immunofluorescence (1:50-1:200) The optimal working dilution should be determined by the end user. |
| Formulation | In PBS, pH 7.2 (0.05% sodium azide) |
| Gene | MVK |
| Gene Alias | FLJ96772/LRBP/MK/MVLK |
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