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MVK Matched Antibody Pair (766) (APMAB-766LY)


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Specifications

ApplIcation
Sandwich ELISA
Specificity
Human
Capture Antibody
Rabbit anti-MVK polyclonal antibody, 100 ug
Detection Antibody
Anti-MVK Mouse polyclonal antibody, 20 ug
Dilutions
10 ng/ml-100 ng/ml
Format
Liquid
Storage
Aliquot and store at -20°Cor -80°C. Avoid freeze-thaw cycles.
Introduction
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]
Alternative Names
Mevalonate Kinase; LH Receptor MRNA-Binding Protein; EC 2.7.1.36; MK; Mevalonate Kinase (Mevalonic Aciduria); Mevalonate Kinase 1;
Entrez Gene ID
4598
UniProt ID
Q03426
More Infomation

Touitou, I. (2022). Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review. Genes & Diseases, 9(4), 1000-1007.

Elhani, I., Hentgen, V., Grateau, G., & Georgin-Lavialle, S. (2022). Neurological manifestations in mevalonate kinase deficiency: A systematic review. Molecular Genetics and Metabolism, 136(2), 85-93.

Boursier, G., Rittore, C., Milhavet, F., Cuisset, L., & Touitou, I. (2021). Mevalonate kinase-associated diseases: hunting for phenotype–genotype correlation. Journal of Clinical Medicine, 10(8), 1552.

Politiek, F. A., & Waterham, H. R. (2021). Compromised protein prenylation as pathogenic mechanism in mevalonate kinase deficiency. Frontiers in immunology, 3504.

Tabatabaee, S., Iranbakhsh, A., Shamili, M., & Ardebili, Z. O. (2021). Copper nanoparticles mediated physiological changes and transcriptional variations in microRNA159 (miR159) and mevalonate kinase (MVK) in pepper; potential benefits and phytotoxicity assessment. Journal of Environmental Chemical Engineering, 9(5), 106151.

Govindaraj, G. M., Jain, A., Peethambaran, G., Bhoyar, R. C., Vellarikkal, S. K., Ganapati, A., ... & Scaria, V. (2020). Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. PloS one, 15(8), e0237999.

Munoz, M. A., Jurczyluk, J., Simon, A., Hissaria, P., Arts, R. J., Coman, D., ... & Rogers, M. J. (2019). Defective protein prenylation in a spectrum of patients with mevalonate kinase deficiency. Frontiers in immunology, 10, 1900.

McClory, J., Lin, J. T., Timson, D. J., Zhang, J., & Huang, M. (2019). Catalytic mechanism of mevalonate kinase revisited, a QM/MM study. Organic & Biomolecular Chemistry, 17(9), 2423-2431.

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For research use only. Not intended for any clinical use.

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