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.
Background References
1. Hinson D.D. et. al. Post-translational regulation of mevalonate kinase by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathways. J. Lipid Res. 38:2216-2223(1997).
Western blot analysis of MVK on different lysates with Rabbit anti-MVK antibody (ER2001-64) at 1/2,000 dilution.
Lane 1: HeLa (Human cervical adenocarcinoma cell) cell lysate Lane 2: Hep G2 (Human hepatocellular carcinoma cell) cell lysate Lane 3: A431 (Human epidermoid carcinoma skin squamous cell) cell lysate
Lysates/proteins at 15 µg/Lane. Exposure time: 10 seconds; ECL: K1801
Blocking: 5% NFDM/TBST, 1 hour at room temperature Primary antibody: ER2001-64, 1/2,000 in primary antibody dilution buffer (K1803), overnight at 4 ℃ Secondary antibody: Goat anti-Rabbit IgG-HRP (HA1001), 1/50,000 in 5% NFDM/TBST, 1 hour at room temperature
Predicted band size: 42 kDa Observed band size: 45 kDa
Flow cytometric analysis of MVK was done on HepG2 cells. The cells were fixed, permeabilized and stained with the primary antibody (ER2001-64, 1/50) (red). After incubation of the primary antibody at room temperature for an hour, the cells were stained with a Alexa Fluor 488-conjugated Goat anti-Rabbit IgG Secondary antibody at 1/1000 dilution for 30 minutes.Unlabelled sample was used as a control (cells without incubation with primary antibody; black).
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