Explore
Validate
LearnTissue 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 |
|||||
| LSBio |  LS-C133916 |
Monoclonal |
WB
EL
IHC
|
||
| Proteintech Group | 12228-1-AP |
4 references | Polyclonal |
WB
EL
ICC
|
|
| Atlas Antibodies | HPA016961 |
1 references | Polyclonal |
WB
IHC
|
|
| antibodies-online | ABIN484447 |
1 references | Polyclonal |
WB
EL
IHC
|
|
| R&D Systems | AF8516 |
Polyclonal |
WB
ICC
IP
|
||
All Antibodies
Filters
Enhanced validation Supportive data in Antibodypedia Data presented on provider website
Data in Antibodypedia (inconclusive) Recommended by provider