2.7.1.36: mevalonate kinase
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For detailed information about mevalonate kinase, go to the full flat file.
Word Map on EC 2.7.1.36
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2.7.1.36
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fever
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autoinflammatory
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cholesterol
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isoprenoids
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mediterranean
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aciduria
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hereditary
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receptor-associated
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hyperimmunoglobulinemia
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vinyl
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ketone
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cryopyrin-associated
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phosphomevalonate
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febrile
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igd
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isopentenyl
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monogenic
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farnesyl
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tnfrsf1a
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isoprene
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hyper-igd
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anakinra
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rash
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lymphadenopathy
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hmg-coa
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inflammasome
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geranylgeranylation
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amyloidosis
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aphthous
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porokeratosis
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arthralgia
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non-sterol
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pyoderma
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nod2
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papa
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autoinflammation
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gangrenosum
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canakinumab
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adenitis
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pstpip1
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hyperimmunoglobulin
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medicine
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hepatosplenomegaly
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cholesterogenesis
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etanercept
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cryopyrin
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synthesis
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diagnostics
- 2.7.1.36
- fever
- autoinflammatory
- cholesterol
-
isoprenoids
-
mediterranean
- aciduria
- hereditary
-
receptor-associated
- hyperimmunoglobulinemia
-
vinyl
- ketone
-
cryopyrin-associated
- phosphomevalonate
-
febrile
- igd
-
isopentenyl
-
monogenic
-
farnesyl
-
tnfrsf1a
- isoprene
-
hyper-igd
-
anakinra
- rash
- lymphadenopathy
- hmg-coa
- inflammasome
-
geranylgeranylation
- amyloidosis
-
aphthous
- porokeratosis
- arthralgia
-
non-sterol
-
pyoderma
- nod2
- papa
- autoinflammation
- gangrenosum
-
canakinumab
- adenitis
-
pstpip1
-
hyperimmunoglobulin
- medicine
-
hepatosplenomegaly
-
cholesterogenesis
-
etanercept
-
cryopyrin
- synthesis
- diagnostics
Reaction
Synonyms
ATP: mevalonate 5-phosphotransferase, ATP:mevalonate 5-phosphotransferase, GbMVK, kinase, mevalonate (phosphorylating), mevalonate 5-phosphotransferase, mevalonate phosphokinase, mevalonic acid kinase, mevalonic kinase, MmMK, MVA kinase, MVK, SSO0383, TcMVK, TeMVK
ECTree
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Application
Application on EC 2.7.1.36 - mevalonate kinase
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diagnostics
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mutations in the mevalonate kinase gene cause the hyperimmunoglobulin D syndrome, HIDS, and are an appropriate marker for the disease
medicine
synthesis
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production of amorpha-4,11-diene by an engineered strain of Escherichia coli containing codon-optimized MevT and amorphadiene synthase operons, and additional copies of mevalonate kinase and amorphadiene synthase genes, which could be identified as rate-limiting enzymes
medicine
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case study of patients with mevalonic aciduria. Patients display high urinary excretion of mevalonic acid. After the second year of life they developed mental retardation, ataxia and hypotonia as well as cerebellar atrophy of both hemispheres and vermis
medicine
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clinical relevance of the measurement of IgD for diagnosis of mevalonate kinase deficiency is poor
medicine
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inhibition of HMG-CoA reductase by simvastatin treatment of LPS-stimulated peripheral blood mononuclear cells mimicks mevalonate kinase deficiency and results in increased interleukin-1beta secretion in Rac1/phosphatidylinositol-3 kinase-dependent manner. Results suggest that in mevalonate kinase deficiency, dysregulated isoprenoid biosynthesis activates Rac1/phosphatidylinositol-3 kinase/PKB resulting in caspase-1 activation with increased interleukin-1beta processing and release. Inhibition of Rac1 in LPS-stimulated peripheral blood mononuclear cells from patients with mevalonate kinase deficiency results in dramatic reduction in interleukin-1beta release
medicine
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inhibition of the isoprenoid pathway results in a dose-dependent reduction of amyloid formed. The inhibitory effects of lovastatin are reversible by addition of farnesol but not geranylgeraniol. Farnesyl transferase inhibition also inhibits amyloidogenesis
medicine
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luteinizing hormone receptor mRNA is up-regulated due to increased stability when estrogen negatively controls mevalonate kinase
medicine
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mouse model for typical mevalonate kinase deficiency can be obtained by treatment of BALB/c mice with aminobisphosphonate alendronate and bacterial muramyldipeptide. Exogenous isoprenoids geraniol, farnesol and geranylgeraniol are effective in prevention of the inflammation induced by alendronate/muramyldipeptide
medicine
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no significant correlation between mutations in the mevalonate kinase gene and Behcet's disease. Of 97 patients, two had paired mutations in the mevalonate kinase gene and displayed typical features of Behcet's disease and mevalonate kinase deficiency
medicine
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patient with hyperimmunoglobulinemia D due to mutations of the gene coding for mevalonatekinase, and periodic fever syndrome. Treatment with etanercept with a dose of 0.8 mg/kg per week results in great improvement of both attacks and acute-phase response but with still persistent massive hepatosplenomegaly
medicine
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patient with mevalonate kinase deficiency due to mutation Q390P and a four-base deletion c.475-478 delACTG. Patient shows high serum immunoglobulin D, elevated mevalonaciduria and low mevalonate kinase activity in lymphocytes. Patient was treated with subcutaneous doses of anakinra. Most disease manifestations regressed dramatically and no new flares have occurred
medicine
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patients with hyperimmunoglobulinemia D and periodic fever syndrome due to mutations V377I/I268T. Patients developed significant B cell cytopenia with hypogammaglobulinemia. Therapy of prednisone, azathioprine, and intravenous immunoglobulins resulted in reduced incidence and severity of febrile attacks
medicine
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severe case of mevalonate kinase deficiency associated with nephritis. Patient is homozygous for mutation G336S, catalytic activity of the mutant enzyme is less than 1% of wild-type activity. Laboratory data obtained in a period of well-being show increased values of markers of inflammation, severe anemia, and high serum IgA values. Serum autoantibodies are undetectable. Treatment with interleukin 1 receptor antagonist anakinra resulted in normalization of the C-reactive protein, a rise in the hemoglobin value, and disappearance of proteinuria. Hematuria disappeared after 2 months of treatment