Mevalonate kinase
The MVK gene mevalonate kinase a key enzyme of sterol synthesis. Mutations cause various dominant or recessive disorders whose common denominator is dysregulation of inflammatory processes.
Genetests:
Related Diseases:
References:
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Houten SM et al. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
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Gibson KM et al. (1997) Mevalonate kinase map position 12q24.
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Hoffmann GF et al. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
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Krisans SK et al. (1994) Farnesyl-diphosphate synthase is localized in peroxisomes.
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Fredonnet J et al. (2014) Topographical and nano-mechanical characterization of native corneocytes using atomic force microscopy.
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Zhang SQ et al. (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
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Mandey SH et al. (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
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Wu LQ et al. (2004) Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.
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Schafer BL et al. (1992) Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
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Houten SM et al. (2001) Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
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Hinson DD et al. (1999) Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.
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Houten SM et al. (1999) Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
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van der Meer JW et al. (1984) Hyperimmunoglobulinaemia D and periodic fever: a new syndrome.
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Siemiatkowska AM et al. (2013) Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
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Balgobind B et al. (2005) Retinitis pigmentosa in mevalonate kinase deficiency.
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D'Osualdo A et al. (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
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Prietsch V et al. (2003) Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
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Houten SM et al. (2002) Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.
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Cuisset L et al. (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
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Drenth JP et al. (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
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21. |
Drenth JP et al. (1994) Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.
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OMIM.ORG article
Omim 251170
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Orphanet article
Orphanet ID 123588
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NCBI article
NCBI 4598
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Wikipedia article
Wikipedia EN (Mevalonate_kinase)
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Update: Aug. 14, 2020