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Mevalonate Kinase (MVK)

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LRBP; MK; LH Receptor mRNA-Binding Protein; Mevalonic Aciduria

Mevalonate Kinase (MVK)
CCC H603
HGNC 7530
MGI 107624
PubMed 10369261
RGD 621295
UniProt Q03426
Wiki MVK
MVK 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Mevalonate Kinase (MVK) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Mevalonate Kinase (MVK) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Mevalonate Kinase (MVK) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Mevalonate Kinase (MVK) CLIA Kit Customized Service Offer
n/a ELISA Kit for Mevalonate Kinase (MVK) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Mevalonate Kinase (MVK) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Mevalonate Kinase (MVK) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Mevalonate Kinase (MVK) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Mevalonate Kinase (MVK) CLIA Kit Customized Service Offer
n/a ELISA Kit for Mevalonate Kinase (MVK) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Mevalonate Kinase (MVK) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Mevalonate Kinase (MVK) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Mevalonate Kinase (MVK) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Mevalonate Kinase (MVK) CLIA Kit Customized Service Offer
n/a ELISA Kit for Mevalonate Kinase (MVK) ELISA Kit Customized Service Offer
  1. "Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria."J. Biol. Chem. 267:13229-13238(1992) [PubMed] [Europe PMC] [Abstract]
  2. "Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line."Oncogene 9:81-87(1994) [PubMed] [Europe PMC] [Abstract]
  3. "Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome."Eur. J. Hum. Genet. 9:253-259(2001) [PubMed] [Europe PMC] [Abstract]
  4. ErratumEur. J. Hum. Genet. 9:651-651(2001)
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Mevalonate kinase is a cytosolic enzyme in humans."J. Cell Sci. 117:631-639(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  8. "Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry."Am. J. Hum. Genet. 65:327-335(1999) [PubMed] [Europe PMC] [Abstract]
  9. "Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis."Hum. Mol. Genet. 8:1523-1528(1999) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome."Nat. Genet. 22:175-177(1999) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome."Nat. Genet. 22:178-181(1999) [PubMed] [Europe PMC] [Abstract]
  12. "Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome."Eur. J. Hum. Genet. 9:260-266(2001) [PubMed] [Europe PMC] [Abstract]
  13. "MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever."Eur. J. Hum. Genet. 13:314-320(2005) [PubMed] [Europe PMC] [Abstract]