Mevalonate kinase; LRBP; MK; MVLK

For Research Use Only. Not for use in diagnostic procedures.

E Coli

> 90% by SDS-PAGE

Liquid. In 20mM Tris-HCl Buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT

0.5 mg/ml (determined by Bradford assay) (lot specific)

Can be stored at 4 degree C short term (1-2 weeks).
For long term storage, aliquot and store at -20 degree C or -70 degree C.
Avoid repeated freezing and thawing cycles.

Small volumes of MVK recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Metabolism

SDS-PAGE

44.8 kDa (419aa) confirmed by MALDI-TOF

mevalonate kinase

mevalonate kinase

Mevalonate kinase

MK??[Similar Products]

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]

May be a regulatory site in cholesterol biosynthetic pathway.

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

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