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Mevalonate kinase

From Wikipedia, the free encyclopedia
Mevalonate Kinase
Identifiers
EC no.2.7.1.36
CAS no.9026-52-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins
MVK
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; OMA:MVK - orthologs
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: 114.58 – 114.6 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:

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

Function

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Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.[6] As the second enzyme in the Mevalonate pathway, it catalyzes the phosphorylation of Mevalonic acid to produce Mevalonate-5-phosphate.[8] A reduction in mevalonate kinase activity to around 5-10% of its typical value is associated with the mevalonate kinase deficiency (MVD) resulting in accumulation of intermediate mevalonic acid.[9]

Mevalonate pathway

Clinical significance

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Defects can be associated with hyperimmunoglobulinemia D with recurrent fever.[10]

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] The symptoms of the disease typically start at infancy and may be additionally triggered by stress or bacterial infection. Children with mevalonate kinase deficiency may remain undiagnosed for a long time as there is not enough scientific data at the moment to accurately diagnose children with the disease.[9]

See also

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References

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  1. ^ PDB: 2X7I​; Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, et al. (June 2010). "The Scottish Structural Proteomics Facility: targets, methods and outputs". Journal of Structural and Functional Genomics. 11 (2): 167–80. doi:10.1007/s10969-010-9090-y. PMC 2883930. PMID 20419351.
  2. ^ a b c GRCh38: Ensembl release 89: ENSG00000110921Ensembl, May 2017
  3. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041939Ensembl, 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". The Journal of Biological Chemistry. 267 (19): 13229–38. doi:10.1016/S0021-9258(18)42199-0. PMID 1377680.
  8. ^ Mulders-Manders CM, Simon A (July 2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Seminars in Immunopathology. 37 (4): 371–6. doi:10.1007/s00281-015-0492-6. PMC 4491100. PMID 25990874.
  9. ^ a b Stabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D (December 2013). "Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level". Rheumatology International. 33 (12): 3039–42. doi:10.1007/s00296-012-2577-z. PMID 23239036. S2CID 3220012.
  10. ^ Online Mendelian Inheritance in Man (OMIM): 260920

Further reading

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