MVECs |
MVRIKPGSANKPSD |
MetRS |
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[Mevalonate kinase] MVK - EC2.7.1.36 In the enzyme nomenclature catalogue - is a key enzyme of the mevalonate pathway, which produces the biosynthetic precursors for steroids, including cholesterol, and isoprenoids (Miziorko, 2011). The enzyme catalyses the key regulatory step in the mevalonate pathway, the phosphorylation of mevalonate to mevalonate 5-phosphate (Potter et al, 1997; Fu et al, 2008).
Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype mediated by IL1 and inflammasome activation. Patients show recurrent fevers, lymphadenopathy, and high acute phase proteins (for overview see: van der Burgh R et al, 2013).
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