Mevalonate kinase

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Mevalonate Kinase
MevalonateKinase.png
Identifiers
EC number 2.7.1.36
CAS number 9026-52-2
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO
Mevalonate kinase
PDB 2r3v EBI.png
PDB rendering based on 2r3v.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MVK ; LRBP; MK; MVLK; POROK3
External IDs OMIM251170 MGI107624 HomoloGene372 GeneCards: MVK Gene
EC number 2.7.1.36
Orthologs
Species Human Mouse
Entrez 4598 17855
Ensembl ENSG00000110921 ENSMUSG00000041939
UniProt Q03426 Q9R008
RefSeq (mRNA) NM_000431 NM_023556
RefSeq (protein) NP_000422 NP_076045
Location (UCSC) Chr 12:
110.01 – 110.04 Mb
Chr 5:
114.44 – 114.46 Mb
PubMed search [1] [2]

Mevalonate kinase is an enzyme that in humans is encoded by the MVK gene.[2][3] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:

.

Function[edit]

Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.[2]

Clinical significance[edit]

Defects can be associated with hyperimmunoglobulinemia D with recurrent fever.[4]

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.[2]

See also[edit]

References[edit]

  1. ^ PDB 2X7I; Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, Kerou M, Weikart ND, Kadi N, Sheikh MA, Schmelz S, Dorward M, Zawadzki M, Cozens C, Falconer H, Powers H, Overton IM, van Niekerk CA, Peng X, Patel P, Garrett RA, Prangishvili D, Botting CH, Coote PJ, Dryden DT, Barton GJ, Schwarz-Linek U, Challis GL, Taylor GL, White MF, Naismith JH (June 2010). "The Scottish Structural Proteomics Facility: targets, methods and outputs". J. Struct. Funct. Genomics 11 (2): 167–80. doi:10.1007/s10969-010-9090-y. PMC 2883930. PMID 20419351. 
  2. ^ a b c "Entrez Gene: mevalonate kinase". 
  3. ^ Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD (July 1992). "Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria". J. Biol. Chem. 267 (19): 13229–38. PMID 1377680. 
  4. ^ Online 'Mendelian Inheritance in Man' (OMIM) 260920


Further reading[edit]

External links[edit]