This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
Lagerung
-20 °C
Informationen zur Lagerung
Store at -20°C. Avoid freeze / thaw cycles.
Target
MVK
(Mevalonate Kinase (MVK))
Andere Bezeichnung
MVK
Hintergrund
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,LRBP,MK,MVLK,POROK3,Cancer,Signal Transduction,Endocrine & Metabolism,Lipid Metabolism,Cholesterol Metabolism,Cardiovascular,Lipids,MVK