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Mouse Anti-MVK (AA 1-396AA ) Recombinant Antibody (CBFYM-0057) (CBMAB-M0064-FY)

This product is mouse antibody that recognizes MVK. The antibody CBFYM-0057 can be used for immunoassay techniques such as: WB, ELISA.
See all MVK antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-0057
Antibody Isotype
IgG3, k
Application
WB, ELISA

Basic Information

Immunogen
Recombinant human MVK (1-396aa) purified from E. coli
Specificity
Human
Antibody Isotype
IgG3, k
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Concentration
1 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 1-396AA

Target

Full Name
Mevalonate Kinase
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.
Entrez Gene ID
4598
UniProt ID
Q03426
Alternative Names
Mevalonate Kinase; LH Receptor MRNA-Binding Protein; EC 2.7.1.36; MK; Mevalonate Kinase (Mevalonic Aciduria); Mevalonate Kinase 1
Function
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:9325256, PubMed:18302342, PubMed:9392419, PubMed:11278915).
Biological Process
Cholesterol biosynthetic process Source: UniProtKB
Isopentenyl diphosphate biosynthetic process, mevalonate pathway Source: GO_Central
Isoprenoid biosynthetic process Source: UniProtKB
Negative regulation of inflammatory response Source: BHF-UCL
Cellular Location
Cytoplasm
Peroxisome
Involvement in disease
Mevalonic aciduria (MEVA):
Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS):
Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.
Porokeratosis 3, multiple types (POROK3):
A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported.

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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