Tissue expression
Cell line expression
Protein structure
MVK
Mevalonate kinaseLRBP, MK
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. [provided by RefSeq, Jul 2014]
Top validated antibodies |
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Proteintech Group | 12228-1-AP | 4 references | Polyclonal |
WB
EL
ICC
|
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LSBio | LS-C133916 | Monoclonal |
WB
EL
IHC
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antibodies-online | ABIN484447 | 1 references | Polyclonal |
WB
EL
IHC
|
|
R&D Systems | AF8516 | Polyclonal |
WB
ICC
IP
|
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Cusabio Biotech Co., Ltd | CSB-PA003337 | Polyclonal |
WB
EL
ICC
IHC |
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Recommended by provider