Anti-MVK Antibody Picoband®

SKU: A02465-2

Size: 100 μg

Storage: At -20℃ for one year from date of receipt. After reconstitution, at 4℃ for one month. It can also be aliquotted and stored frozen at -20℃ for six months. Avoid repeated freezing and thawing.

Form: Lyophilized

Reactivity: Human

Applications: WB,IHC,IF,IP,Flow Cytometry,ELISA

Application Details: Western blot, 0.25-0.5 μg/ml, Human
Immunohistochemistry (Paraffin-embedded Section), 2-5 μg/ml, Human
Immunofluorescence, 5 μg/ml, Human
Immunoprecipitation, 0.5-2 μg/ml, Human
Flow Cytometry (Fixed), 1-3 μg/1x10⁶ cells, Human
ELISA, 0.1-0.5 μg/ml, -

Gene Name: MVK

Specificity:

Background: 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.

Immunogen: 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.

Clonality: Polyclonal

Contents: Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.

Purification: Immunogen affinity purified.

Reconstitution: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Reference: 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.

Uniprot ID: Q03426

Host: Rabbit

Concentration: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Conjugate:

Cross Reactivity:

Isotype: IgG

Phospho_site:

Clone Number:

Observed Molecular Weight: 42 kDa

Calculated Molecular Weight: 42 kDa

Gene ID: 4598

Protein Name: Mevalonate kinase

Gene Full Name: mevalonate kinase

Synonyms: LRBP; mevalonate kinase; MK; MVK; MVLK