Mevalonate kinase

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Mevalonate Kinase
MevalonateKinase.png
Identifiers
EC number2.7.1.36
CAS number9026-52-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
MVK
PDB 2r3v EBI.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMVK, LRBP, MK, MVLK, POROK3, mevalonate kinase
External IDsOMIM: 251170, 260920, 610377, 175900 MGI: 107624 HomoloGene: 372 GeneCards: MVK
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[2]
Chromosome 12 (human)
Genomic location for MVK
Genomic location for MVK
Band12q24.11Start109,573,255 bp[2]
End109,598,125 bp[2]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000431
NM_001114185
NM_001301182

NM_023556
NM_001306205

RefSeq (protein)

NP_000422
NP_001107657
NP_001288111

NP_001293134
NP_076045

Location (UCSC)Chr 12: 109.57 – 109.6 MbChr 5: 114.44 – 114.46 Mb
PubMed search[4][5]
Wikidata
View/Edit HumanView/Edit Mouse

Mevalonate kinase is an enzyme (specifically a kinase) that in humans is encoded by the MVK gene.[6][7] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:

ATP + (R)-mevalonate ADP + (R)-5-phosphomevalonate

.

Function[edit]

Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.[6]

Clinical significance[edit]

Defects can be associated with hyperimmunoglobulinemia D with recurrent fever.[8]

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.[6]

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 GRCh38: Ensembl release 89: ENSG00000110921 - Ensembl, May 2017
  3. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041939 - Ensembl, May 2017
  4. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  6. ^ a b c "Entrez Gene: mevalonate kinase".
  7. ^ 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.
  8. ^ Online Mendelian Inheritance in Man (OMIM) 260920

Further reading[edit]

External links[edit]