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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 | mevalonate kinase |
| Applications | ELISA, Western Blot |
| Classification | Polyclonal |
| Conjugate | Unconjugated |
| Description | Mouse polyclonal antibody raised against a partial recombinant MVK. |
| Formulation | 50% glycerol |
| Gene | MVK |
| Gene Accession No. | BC016140 |
| Gene Alias | FLJ96772/LRBP/MK/MVLK |
| Gene Symbols | MVK |
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