Recombinant human MVK protein
Mevalonate kinase, also known as MVK, belongs to the GHMP kinase family. 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. Recombinant human MVK protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.
Product Specifications
Product Name Alternative
Mevalonate kinase, LRBP, MK, MVLK
Expression System
E.coli
Antigen Species
Human
Tag
His-Tag
Applications
SDS-PAGE
Concentration
0.5 mg/mL (determined by Bradford assay)
Purity
> 90% by SDS-PAGE
Molecular Weight
44.8 kDa (419aa) confirmed by MALDI-TOF
Additionnal Information
References & Citations
Cuisset L., et al. (2001) Eur. J. Hum. Genet. 9:260-266; ; D'Osualdo A., et al. (2005) Eur. J. Hum. Genet. 13:314-320
Storage Conditions
Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.
Formulation
Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT
Scientific Category
Metabolism
NCBI Accession Number
NP_001107657.1
Uniprot Accession Number
Q03426
Species
Human
AA Sequence
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