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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 |
1 references | Polyclonal |
WB
EL
ICC
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| antibodies-online | ABIN484447 |
1 references | Polyclonal |
WB
EL
IHC
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| 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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| Affinity Biosciences | DF3238 |
Polyclonal |
WB
EL
ICC
IHC
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