Anti-MVK Antibody Picoband® 0,00647 Vervoeging

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.

MVK

4598

Q03426

Human

E.coli-derived human MVK recombinant protein (Position: K13-D394) . Human MVK shares 80.8% and 81.4% amino acid (aa) sequence identity with mouse and rat MVK, respectively.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Balgobind, B., Wittebol-Post, D., Frenkel, J. Retinitis pigmentosa in mevalonate kinase deficiency. J. Inherit. Metab. Dis. 28: 1143-1145, 2005. 2. Brito, T., Banganho, D., Pedrosa, C., Neves, J. F. Homozygous V377I mutation causing mevalonate kinase. BMJ Case Rep. 15: e249135, 2022. 3. Cuisset, L., Drenth, J. P. H., Simon, A., Vincent, M. F., van der Velde Visser, S., van der Meer, J. W. M., Grateau, G., Delpech, M., International Hyper-IgD Study Group. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Europ. J. Hum. Genet. 9: 260-266, 2001.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

42 kDa

6

IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.