MVK Antibody (1D7) Summary
| Immunogen |
Full length human recombinant protein of human MVK (NP_000422) produced in HEK293T cell.
|
| Isotype |
IgG2a
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| Clonality |
Monoclonal
|
| Host |
Mouse
|
| Gene |
MVK
|
| Purity |
Immunogen affinity purified
|
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|
Applications/Dilutions
| Dilutions |
|
Reactivity Notes
Human
Packaging, Storage & Formulations
| Storage |
Store at 4C short term. Aliquot and store at -20C long term. Avoid freeze-thaw cycles.
|
| Buffer |
PBS (pH 7.3), 1.0% BSA and 50% Glycerol
|
| Preservative |
0.02% Sodium Azide
|
| Purity |
Immunogen affinity purified
|
Alternate Names for MVK Antibody (1D7)
- EC 2.7.1.36
- LH receptor mRNA-binding protein
- LRBP
- mevalonate kinase (mevalonic aciduria)
- mevalonate kinase 1
- mevalonate kinase
- Mevalonic Aciduria
- MKFLJ96772
- MVK
- MVLK
- POROK3
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. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq].